cqdysV ,d(1)

chVkFkSyklhfe;k d

s ckjs esa

MkW- ,aMªksyk ,YQFksjks ¼ch-,llh-] ,e-,llh-] ih,p-Mh] ,ech,½

vkSj MkW- ekbdy ,axkSfLVfuvksfVl ¼,eMh] Mh lh ,p½ ds }kjk

'kSf e{ zdZkd ; kd

FkSyklhfe;k ds ckjs esa FkSyklhfe;k ds ckjs esa

FkSyklhfe;kvarjkZ"Vªh;QsMjs'ku 1986^^MCY;w- ,p- vks- ls lac) 1996**

gheksXyksfcu&laca/kh chekfj;k¡gheksXyksfcuksiSFkht+

FkSyklhfe;k varjkZ"Vªh; QsMjs'ku& çdk'ku la[;k 11

ISBN: 978-9963-623-46-4

© 2007 Team up Creations Ltd.14 Othonos str, 1016 Nicosia - Cyprus

loZkf/dkj lqjf{krA

bl izdk'ku ds fdlh Hkh va'k dk izfrfyfidj.k] ,sls ;a=k esa HkMkj.k] ftlls bls iqu% izkIr fd;k tk ldrk gks

;k LFkkukarj.k] fdlh Hkh :i esa ;k fdlh Hkh fof/ ls] bysDVªkWfud] ;kaf=kd] iQksVks&izfrfyfi]

fjdk£Max ;k fdlh vkSj <ax ls] izdk'kd dh iwoZ vuqefr ds fcuk ugha fd;k tk ldrkA

fnYyh] Hkkjr esa fizfUVMA

This booklet titled "About Beta Thalassaemia" authored by Dr. Androulla Eleftheriou and Dr. Michael Angastiniotis is a publication of Thalassaemia International Federation. To create public awareness and increase understanding about Thalassaemia, this book has been translated in Hindi by Dr. V. K. Khanna who is a senior consultant pediatrician and incharge of Preeti Tuli Thalassemia Unit at Sir Ganga Ram Hospital, New Delhi, India. The printing of this book has been facilitated by Thalassemics India, A-9, Nizamuddin West, New Delhi, India.

MkW- ,aMªksyk ,YiQFksjks vkSj MkW- ekbdy ,axkSfLVfuvksfVl ds }kjk fyf[kr ;g

cqDysV ¶chVk FkSyklhfe;k ds ckjs esa FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku dk

izdk'ku gSA tkx:Drk rFkk FkSyklhfe;k ds ckjs esa tkudkjh c<+kus ds fy, ;g

cqDysV MkW- oh- ds- [kUuk] izHkkjh] izhfr rqyh FkSyklhfe;k ;qfuV] lj xaxk jke

vLirky] ubZ fnYyh] Hkkjr ds }kjk fgUnh esa vuqokfnr dh xbZ gSA bl cqDysV dh

fizfUVx FkSyklsfeDl bfUM;k] ,&9] fut+keqíhu if'pe] ubZ fnYyh] Hkkjr }kjk

lqxe dh xbZ gSA

01b&FkSyklhfe;k

ifjp; (chekjh dh tkudkjh)

jDr (laiw.kZ jDr)

gheksXyksfcu

vuqoakf'kdrk (Inheritance) (tUe d s lkFk gh vku s okyh chekjh) &FkSyklhfe;k ds laokgdkas (carriers)

ds ckjs esa

dksbZ O;fDr laokgd gS ;k ugha] bldk irk dSls pysxk\

yscksjsVjh tkap

D;k gheksXyksfcu&laca/h chekfj;ksa dh jksdFkke dh tk ldrh gS\

fdlh tksf[keiw.kZ tksM+s ds fy, miyC/ fodYi Hkzw.k (fetus) dh tkap Hkzw.k dh igpku (diagnosis) dSls dh tkrh gSA xHkZ lekIr djuk vU; rjhds

b&FkSyklhfe;k estj dk jksxh gksuk

b&FkSyklhfe;k estj dk bykt D;k gS\

b&FkSyklhfe;k estj gksus dk irk dSls pyrk gS\

yscksjsVjh esa vkerkSj ij bLrseky fd, tkus okys rjhdss

D;k FkSyklhfe;k estj ds jksxh cPps iSnk dj ldrs gS\

b&FkSyklhfe;k vkSj vU; gheksXyksfcu&laca/h chekfj;k¡ fdu txgksa ij ikbZ tkrh gSa\

i"B 04

i"B 04

i"B 05

i"B 06

i"B 08

i"B 15

i"B 15

i"B 16

i"B 17i"B 18

i"B 19i"B 20

i"B 20

i"B 21

i"B 22

i"B 23

i"B 24

i"B 25

i"B 29

b

fo"k; lwph

eq>s vk'kk gS fd yksxksa dks tkudkjh nsus vkSj tkx:dcukus okyh ;g cqdysV gheksXyksfcu ls tqM+h chekfj;ksa] budh jksdFkke vkSj bykt ds ckjs esa iwjh nqfu;k dks

dh VhvkbZ,Q dh dksf'k'kksa esa cgqr ennxkj lkfcr gksxhAtkx:d djus

;g cqdysV (,d)

laokgd gSa ;k jksxh gSa ;k FkSyklhfe;k ds ckjs esa T;knk tkudkjh pkgrs gSa rks vkidks ;g

cqdysV t:j i<+uh pkfg,A bl cqdysV ds ys[kdksa uas bl chekjh] bl chekjh dk eka&cki

ls cPpksa esa tUe ds lkFk gh vkuk (vuqoaf'kd ikzfIr)] bldh jkds Fkke vkjS bykt d s ckj s e as

ewY;oku tkudkfj;k anus sdh ijw h dkfs'k'k dh gAS

vxj vki bl cqdysV esa crk, x, fdlh igyw ds ckjs esa T;knk tkudkjh pkgrs gSa rks

gekjh lykg gS fd vki vius MkWDVj ;k jk"Vªh; LokLF; izkf/dj.k (national health

authority) ls feysaA bl cqdysV ds ys[kd Hkh izlUurkiwoZd vkids lokyksa ds

;FkklaHko tokc nsus dh iwjh dksf'k'k djsaxsA

b&FkSyklhfe;k ds ckjs esa cqfu;knh tkudkjh nsrh gSA vxj vki

bu rhuksa cqdysVksa (bl cqdysV lfgr) dk mís'; chVk

vYiQk&FkSyklhfe;k (cqdysV&nks) vkSj fldy lsy chekjh (cqdysV&rhu) ds ckjs esa

tkuus ds bPNqd O;fDr;ksa dks ljy Hkk"kk esa egRoiw.kZ tkudkfj;ka nsuk gSA bu cqdysVksa dks

rS;kj djus esa viuk cs'kdherh ;ksxnku nsus ds fy, FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku

(Thalassaemia International Federation) vius oSKkfud lykgdkj iSuy ds

lnL;ksa MkW- ,aMªksyk ,YiQFksjks vkSj MkW- ekbdy ,axksfLVfuvksfVl ds cgqr vkHkkjh gSA

iSuksl ,atyst+ksl

vè;{k] Vh vkbZ ,iQ

&FkSyklhfe;k (cqdysV ,d)

b&FkSyklhfe;k02

vè;{kdklans'k

03

FkSyklhfe;k varjkZ"Vªh; QsMjs'ku

ds ckjsa esa

¶FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku (TIF) dh LFkkiuk lalkj ds gj ihfM+r ns'k esa

FkSyklhfe;k dh izHkkoh jksdFkke vkSj blds mfpr funku ,oa izca/u ds fy, jk"Vªh;

fua;=k.k dk;ZØeksa dks c<+kok nsus ds mís'; ls ess dh xbZ FkhA vkt TIF ¶vaczsyk

iQsMjs'ku gS] ftlesa 'kkfey gSa vkSj nqfu;k Hkj ds

yk[kksa jksfx;ksa dh ns[kHkky djrk gSA

FkSyklhfe;k varjkZ"Vªh; iQsMjs'ku] fo'o LokLF; laxBu (WHO) ds lkFk vkSipkfjd

rkSj ij 1996 ls tqM+k gqvk gS vkSj ;g 60 ls vf/d ns'kksa ds bl {ks=k ls tqM+s oSKkfudksa ,oa

esfMdy izksiQs'kuyksa vkSj varjkZ"Vªh; ,oa ;wjksih; LokLF; fudk;ksa (health bodies),

iQkekZL;wfVdy daifu;ksa ,oa ,tsafl;ksa rFkk chekjh ls lacaf/r jksfx;ksa ds vU; laxBuksa ds

lkFk feydj dke djrk gSA

TIF dk f'k{kk&laca/h dk;ZØe blds lcls vf/d egRoiw.kZ vkSj liQy xfrfof/;ksa esa

ls ,d gSA blesa LFkkuh;] jk"Vªh;] {ks=kh; vkSj varjkZ"Vªh; dk;Z'kkyk,¡] dkWUÚsal ,oa lsfeukj

vk;ksftr djus ds lkFk&lkFk LokLF; izksiQs'kuyksa] jksfx;ksa@muds ekrk&firk vkSj

ck¡Vs tkus okys ips±] if=kdk,¡ vkSj fdrkcsa rS;kj djuk]

mudk izdk'ku ,oa vuqokn 'kkfey gSaA

1987

60 ns'kksa ds 98 jk"Vªh; FkSyklhfe;k la?k

vke yksxksa

ds fy, 60 ls vf/d ns'kksa esa eqÝr

,drk gekjk lacy gSgekjk vkn'kZ okD;

nqfu;k Hkj esa QSys FkSyklhfe;k ds gj jksxh dks leku :i ls vPNs Lrj dh LokLF; lqfo/kk miyC/k djkuk

gekjk y{;

b&FkSyklhfe;k

b04

ifjp;%gheksXyksfcu ls tqM+h [kjkfc;ksa dk yky&jDr

dksf'kdkvksa (red blood cells) ij cqjk vlj

iM+rk gSA ;s yky&jDr dksf'kdk,a euq"; ds jDr

(blood) dk egRoiw.kZ fgLlk gksrh gaSA jDr

,d cgrq gh egRoiw .k Z rjy inkFkZ (liquid) g S

tk s 'kjhj d s vxa k as vkjS Årdk as (tissues) rd

vkWDlhtu (O )] gkeksZu] izksVhu] olk vkSj dkcksZgkbMªsV~l tSls t:jh rRo igqapkrk gS vkjS 2

dkcuZ MkbvkDW lkbM (Co )] ;fwj;k ,o a;fwjd ,flM tlS scds kj inkFkk ±sdk sokil y stkrk gAS2

gheksXyksfcu&laca/kh chekfj;k¡gheksXyksfcuksiSFkht+

chVk ¼b½&FkSyklhfe;k ;k esfMVsjsfu;u ,usfe;k ;k dwyh dk (Cooley's),usfe;k

[kwu ¼laiw.kZ jDr½%o;Ldk sa e]as jDr ¶eTtk (marrow) uke d s ,d

fo'k"sk mQrd e as curk g]S tk s gfî;ó k as d s dUsnhz; fgLl s

(bone marrow) e as gkrs k gAS [kuw d s nk s egRoi.w k Z

fgLl sgkrs sg aS%&

(i)IykTek& ;g ,d ihyk ikuh tlS k inkFk Z g]S tk s

dyq jDr dk 55 ifzr'kr gkrs k g aSvkjS ble asikuh] yo.k

,o aegRoi.w k ZikzVs hu ik, tkr sgAaS

(ii) nlw j s fgLl s e as rhu idz kj dh vR;ra NkVs h&NkVs h [kjck as dkfs'kdk, a (cells) gkrs h g S tk s

ekuo&'kjhj dk fuek.Z k djrh gAS ; sg%S &

liQsn jDr dksf'kdk,¡ (white blood cells/WBC) ;k Y;wdkslkbV~l

IysVysV~l (platelets) ;k FkzksEckslkbV~l vkSj

yky jDr dksf'kdk,¡ (red blood cells/RBC) ;k ,fjFkzkslkbV~l

vfLFk eTtk

jDr dh ljapuk

fyEQkslkbVU;wVªksfQy

yky jDr dksf'kdk¡,

IysVysV~l

eksukslkbV IykTek

&FkSyklhfe;k

b&FkSyklhfe;kuksV% bl cqdysV esa blds ckn vYiQk] chVk] xkek] MsYVk 'kCnksa dks buds lacaf/r

ladsfrd fpÉksa dks Øe'k% vkSj d esa fy[kk tk,xkAa, b, g 05

euq"; ds jDr ([kwu) esa 45]00]000&50]00]000 yky&jDr dksf'kdk,¡ ?kwerh jgrh gSa vkSj buesa ls izR;sd esa gheksXyksfcu ds 300 fefy;u v.kq ik, tkrs gSaA gheksXyksfcu ls yky jDr dksf'kdk,¡ dks vkWDlhtu ogu djus dh {kerk feyrh gSA tks jDr esa mldk lcls egRoiw.kZ dk;Z gSA (ekuo tho&lajpuk dh dksf'kdkvksa vkSj vaxks dh of¼ vkSj dk;Z djus dss fy, vkWDlhtu vko';d gS) gheksXyksfcu v.kq ds Hkh nks izeq[k fgLls gksrs gS%&

(i) vkSj (ii)

(i) NksVh&NksVh bdkbZ;ksa ls cuk izksVhu gS] ftls vYiQk (a) vkSj xSj&vYiQk] tSlas chVk (b)] xkek (g)] MsYVk (d) Ja[kykvkas (chains) ds uke ls tkuk tkrk gSA vYiQk (a) Ja[kyk,¡ chVk (b) Ja[kykvksa ds lkFk feydj gheksXyksfcu , (HbA) cukrh gaS] tks o;Ldksa esa T;knkrj ikbZ tkrh gS vkSj Hkzw.k (fetus) esa ik, tkus okys gheksXyksfcu dk 10 izfr'kr rd gksrh gSA vYiQk (a) Ja[kyk,¡ nwljh Ja[kykvksa ds lkFk feydj Hkh xHkZ/kj.k vkSj Hkzw.k&thou ls tUe ysus rd ekuo thou dh fofHkUu voLFkkvksa esa ik;k tkus okyk gheksXyksfcu cukrh gSaA

(molecules)

Xyksfcu ghe

Xyksfcu

izR;sd jDr dksf'kdk ,d [kkl dk;Z djrh gS vkSj buesa ls izR;sd vius [kkl rjhds ls ekuo dks LoLFk j[kus esa enn djrh gS] ftlesa baiQsD'ku ls cpkuk (liQsn jDr dksf'kdk,¡) fdlh jDr ufydk (vessel) ds {kfrxzLr gksus ij [kwu dk cguk de djuk ( rFkk mQrdk asvkjS egRoi.w k Zvxa k asrd vkDW lhtu igp¡q kuk (yky jDr dkfs'kdk,)¡ 'kkfey gAaS

euq";ksa esa dbZ chekfj;k¡ jDr fodkj ds dkj.k gksrh gSa vkSj jDr ds izHkkfor fgLlksa ds vuqlkj bUgsa vyx&vyx oxks± (liQsn jDr dksf'kdkvksa ls lacaf/r chekfj;k¡] IysVysV~l ls lacaf/r chekfj;k¡ vkSj yky jDr dksf'kdkvksa ls lacaf/r chekfj;k¡) esa j[kk tkrk gSA yky jDr dksf'kdkvksa ls lacaf/r chekfj;ksa esa vU; chekfj;ksa ds vykok eka&cki ls izkIr gheksXyksfcuksiSFkh ;k gheksXyksfcu&laca/h chekjh] ftuesa lcls T;knk [krjukd FkSyklhfe;k (vYiQk&a vkSj chVk&b) vkSj fldy lsy chekjh gS rFkk bUgsa bu ukeksa ls blfy, tkuk tkrk gS] D;ksafd ;s chekfj;k¡ yky&jDr dksf'kdkvksa ds gheksXyksfcu (,d fo'ks"k izdkj ds izksVhu)esa gksus okys fodkj ds dkj.k gksrh gaSA

IysVysV~l)

gheksXyksfcu

gheksXyksfcu

ghe

ghe

vkWDlhtu

vkWDlhtu

vkWDlhtu

vkWDlhtu

Xyksfcu

yz zya2 ya1 a2 a1 q1 e gG gA yb db

1116

z2 e2 z2 g2 e2a2 a2 g2 a2b2 a2d2

Hb Gower 1 Hb Portland Hb Gower 2 HbF HbA HbA2

AdultFetusEmbryo

vkd`fr 2-11 a- b- u- 16 rFkk 11 ij dzekuqlkj ,df=kr gks tkrs gSaA foLr`r

bUVªksul dks xgjk jax] 5* rFkk 3* uksu&dksfMxa {ks=k dks gSp rFkk ,DlksUl dks [kkyh j[kk x;k gSA

rFkk Xyksfcu u- a- rFkk b-Xyksfcu thuksa es ØksekslksEl

b06

(ii) oky s fgLl s e as vk;ju (iron, ) gkrs k g]S tk s dkfs'kdkvk as d s c<u+ s vkjS mud s lkekU; :i l s dk; Z djr s jgu s d s fy, vko';d rRo gAS vk;ju e as vkDW lhtu dk s vklkuh l s ikzIr dju svkjS [kkus s dh {kerk gkrs h g]S ftll s ghekXsykfscu d s v.k q dk s vkDW lhtu yku&s y s tku s dh {kerk feyrh g S vkjS 'kjhj d s mQrdk as ,o a vxa k as rd vkDW lhtu dk s vklkuh l s igp¡q k;k tk ldrk gAS o;Ldk as d s 'kjhj e as yxHkx 4 xkze vk;ju gkrs k g]S ftld s 75 ifzr'kr Hkkx dk bLres ky yky jDr dkfs'kdkvk asd sghekXsykfscu v.kvq k asd sl'a y"sk.k e asgkrs k gAS

iz;ksx'kkyk (laboratory) esa gksus okyh lkekU; (routine) [kwu&tk¡p esa ik, tkus okys gheksXyksfcu dk Lrj fdlh O;fDr ds vk;ju ds Lrj dh tkudkjh nsrk gSA

ghe ykSg

vuoq kfa 'kdrk (Inheritance)% ek&a cki l s chekjh dk

cPpk as e as vkuk

gheksXyksfcu&laca/h chekjh eka&cki ls feyus okyh chekjh gS] tks tho&foKku essads uke ls

izpfyr fl¼akr ds vuqlkj ekrk&firk ls cPpksa dks izkIr gksrh gSa] ;kfu ekrk&firk ds lHkh [kkl y{k.k cPpksaa dks thu] tks vuqokaf'kdrk dh ,d tSfod bdkbZ gS vkSj iwjs ekuo&thou ds nkSjku of¼ ,oa fodkl dks fua;f=kr djus ds fy, vko';d tkudkfj;k¡ nsrh gaS] ds ekè;e ls izkIr gksrs gSaA eka&cki ls feyus okyh bu chekfj;ksa ds fy, ekrk&firk nksuksa dk thu ftEesnkj gksrk gSa] tks uj ,oa eknk cPpksa dks leku :i ls (autosomal) izHkkfor dj ldrk gSA

& ;g ,d jklk;fud inkFk Z g]S ftl s vDlj l{a kis e as Mh,u, dgk tkrk gAS Mh,u, thu dk egRoi.w k Z fgLlk gkrs k gAS ekuo&tho lja puk d s db Z efq'dy dk; Z dju s d s fy, bldh cgrq cMh+ l[a ;k e ast:jr gkrs h gAS Mh,u, d scM s+<js ij dkfs'kdk e aslkFk&lkFk tMq s+thu Økes kts k+es d s uke l s tku s tkr s gAaS Øksekst+kse d s 23 tkMs s+gkrs s g]aS ftue asl svkèk sekrk l svkjS vk/ sfirk l sikzIr gkrs sgAaS

¶esaMsfy;u fjlsflo vkWVkslksey iSVuZ vkWQ bUgsfjVsUl

fM&vkDW lhjhckUs;fDw yd vEy (DNA)

o;Ld gheksXyksfcu ds ekeys esa mnkgj.k ds fy,] blds izeq[k ?kVdksa a ,oa b Ja[kykvksa dk mRiknu vkSj la'ys"k.k dk dke fo'ks"k Øksekst+ksEl ij fLFkr thuksa }kjk fu;af=kr fd, tkrs gSaA Øksekst+kse u- 16 ij pkj (4) a&Xyksfcu thu vkSj Øksekst+kse u- 11 ij nks (2) xSj&a&Xyksfcu (tSlsa b, g vkjS d) leku l[a ;k e as Øe'k% a vkjS b J[a kykvk as d scjkcj&cjkcj ek=kk e as mRiknu d s fy, ftEens kj gkrs s gAaS a& (ftls J[a kya kvk as d s mRiknu

5' 3'

gkbZMªkstutksM+

'kwxj&QkslQsVjhM+

vk/kkj

nksgjk Mh-,u-,- gsfyDl

5' 3'

1 gsfydy e

s+ ¾ 3

-4

u ,e

¼nm

kM,

½

Mh,u,3'

5'

5'

3'

&FkSyklhfe;k

b&FkSyklhfe;k

oSKkfud 'kCnkoyh esa dksfMax ds uke ls tkuk tkrk gS) fy, ftEens kj thu e as fdlh rjg dk nk"sk (deh) bu J[a kykvk as d s mRiknu e as deh yk ldrk g S vkjS bll sa&FkSyklhfe;k dk loa kgd gkus s dh fLFkfr cu ldrh gAS vxj ;g nk"sk vf/d thuk as ij vlj Mkyrh g S rk s a&J[a kyk d s mRiknu e as vkjS deh vk tkrh g SvkjS bl dkj.k O;fDr FkyS klhfe;k l s xHa khj :i l s iHz kkfor gk sldrk gAS blh idz kj] b&J[kya kvk as (b&Xykfscu thu) dh thu dkfsMxa e as nk"sk b&J[a kykvk as d s mRiknu e as deh yk ldrk g S ;k mRiknu ijw h rjg cna gk s ldrk gAS dkbs Z O;fDr

b&FkSyklhfe;k dk loa kgd g SvFkok eè;e ;k xHa khj FkyS klhfe;k l sihfMr+ jkxs h g]S bldk irk djuk bl ckr ij fuHkjZ djrk g Sfd b&J[kya k d smRiknu e asdeh fdl Lrj rd vkb ZgAS

,ls s FkyS klhfe;k] ftue as Xykfscu dk mRiknu iHz kkfor gkrs k g]S d s Bhd myV dNq ,ls h fLFkfr;k ¡gkrs h g]aS ftue as thu e as nk"sk d s ifj.kkeLo:i xyr idz kj d s ikzVs hu dk mRiknu gkrs k g]S ftUg asvlkekU; ;k lja pukRed ghekXsykfscu :ikra j (structural haemoglobin variants) dgk tkrk g]S vkjS ftudh cukoV vkjS dk; Z lkekU; ghekXsykfscu (HbA) dh cukoV vkjS dk; Zl svyx gkrs sgAaS mudh vuoq kfa'kd ikzfIr (ekrk&firk ls feyuk) vkSj funku ls lacaf/r (clinical) ifj.kke dk mYys[k cqdysV~l 1] 2 vkjS 3 e as fd;k x;k gSA

d s

(carrier / trait)

gheksXyksfcu&laca/h izeq[k chekfj;k¡ gSa%

aHbH jksx fldy lsy ,usfe;k (jDrkYirk) (HbSS)

a&FkSyklhfe;k gkbZMªkIl fiQVSfyl HbS/b &FkSyklhfe;k (¾Hb ckV~Z dk gkbZMªkWIl fiQVSfyl HbSC chekjh

a&Ja[kyk :ikarj HbSD chekjhvU; de ik, tkus okys fldfyax fodkj

b&FkSyklhfe;k

xaHkhj b&FkSyklhfe;k

eè;e b&FkSyklhfe;k

HbE/b&FkSyklhfe;kvU; de gksus okyh FkSyklhfe;k

&FkSyklhfe;k fldy lsy fodkj

a&J[kayk laca/h chekfj;k¡ b&J[kayk laca/h chekfj;k¡

07

Øksekst+ksEl

b08

ekrk&firk d s vuoq kfa'kd (tUe d s lkFk gh ekrk&firk l s cPpk as dk s feyuk) y{k.kk as d s vulq kj fdl idz kj cPpk as dk s chVk&FkyS klhfe;k ikzIr gkrs k g]S bldh ppk Z bl cdq yVs e as dh tk,xhA vU;

nk scdq yVs k as(2 vkjS 3) e asØe'k% a&FkSyklhfe;k vkjS fldy lys ij ppk Zdh tk,xhAchekfj;ksa

;fn ekrk&firk nkus k ase asb&Xykfscu thu lpq k: :i l sdk; Z (functional) dj jg sgkAas

;fn ekrk&firk e asl s dkbs Z ,d] ,d iHz kkfor b&Xykfscu thu dk ogu djrk gkas

(vkdfr & 1)

vxj ekrk&firk nkus k asdh b&Xykfscu thu viHz kkfor gk s;k ijwh rjg l sdk; Zdj jg sgk]sa rk scPpk nk sviHz kkfor ,o alpq k: :i l sdk;jZ r b&Xykfscu thuk asdh vuoq kfa'kd ikzfIr djxs k rFkk lHkh cPpk ase aslkekU; o;Ld ghekXsykfscu (HbA) ektS nw gkxs hA

;kfu tc ekrk&firk e as l s ,d b&FkyS klhfe;k dk loa kgd gk s vkjS nlw jk nk s viHz kkfor b&Xykfscu thuk asdk ogu djrk gk s rk s ,ls s ekrk&firk d s iRz;ds cPp s e asloa kgd ekrk ;k firk l siHz kkfor b&Xykfscu thu dh vuoq kfa'kd ikzfIr dh lHa kkouk nk se asl s,d (;kfu 50 ») gkxs hA

vkidks laokgd fLFkfr crkus okys vU; uke Hkh fey ldrs gSa] tSls%b&FkSyklhfe;k ds laokgd (Thalassemia traits)

b&FkSyklhfe;k ds fy, gsVªkstkbxl O;fDr (Heterozygous)

y?kq b&FkSyklhfe;k ls ihfM+r O;fDr (Thalassemia minors)

(i)(ii)

(iii)

b&FkSyklhfe;k ds laokgdks ds ckjs esa%bugh agkrs sg aSvkjS mUg assfo'k"sk [kku&iku (diet)] fpfdRlh; ijke'k Z;k bykt dh t:jr ugh agkrs hA

xSj&laokgd (non-carrier) O;kfDr;ksa dh rqyuk esa muesa NksVh yky jDr dksf'kdk,¡ gksrh gSA ,slk blfy, gksrk gS fd fdlh laokgd dks ,d izHkkfor b&Xyksfcu thu dh vuqokaf'kd izkfIr ekrk@firk ls gqbZ gksrh gS tks o;Ld gheksXyksfcu (HbA) de ek=kk esa ;k fcYdqy ugha cukrk gSA bl izdkj] mldh jDr dksf'kdkvksa esa lkekU; ls de gheksXyksfcu gksrh gS vkSj blds iQyLo:i mudk vkdkj xSj&laokgd dksf'kdkvksa dh rqyuk esa NksVk vkSj de yky gksrk gSA fiQj Hkh laokgd vf/d yky dksf'kdk,¡ iSnk djd s bl deh dk s ijw k dj yrs s g aS vkjS bl idz kj jDr ekuo tho&lja puk d sfy, dk; Zdjrk gAaS

loa kgd fLFkfr ckn e asfdlh chekjh e asrCnhy ugh agk sldrhA okLro e]as tc rd bldh [kkl tkp¡ ugh adh tk,] rc rd T;knkrj ykxs k asdk sbldk irk Hkh ugh apyrk gAS gkya kfd] dNq loa kgdk asdk sgYdh jDrkYirk (anaemia) dk vuHq ko gk s ldrk g S vkjS ftldh igpku xyrh l s vk;ju rÙo dh deh okyk ,ufse;k (iron deficiency anaemia) d s :i e asdh tk ldrh gAS gky¡ kfd ycs kjs Vs jh&tkp¡ l snkus k asd schp vra j dk irk vklkuh l syxk;k tk ldrk gAS

&FkyS klhfe;k d s loa kgd chekjh l s ihfMr+ ugh a gkrs s gAaS mue as dkbs Z 'kkjhfjd ;k ekufld y{k.k

&FkSyklhfe;k

09

laHkkouk,a%

50 izfr'krlkekU;

50 izfr'krb&FkSyklhfe;k

laokgd

ekrk&firk esa ls ,d b&FkSyklhfe;k dk laokgdgks vkSj nwljk nks vizHkkfor

b&Xyksfcu thuksa dk ogu djrk gks

lkekU;b&FkSyklhfe;k

vkÑfr 1

b&FkSyklhfe;k

b&FkSyklhfe;k10

urhtk ;g gS fd FkSyklhfe;k ds laokgd gksus dk LokLF;] thou dh vof/ ;k xq.koÙkk ij dksbZ vlj ugha gksrk gSA

laokgd xHkZorh efgykvksa ds ckjs esa D;k jk; gS\

vU; xHkZorh efgykvksa dh rjg] b&FkSyklhfe;k dh laokgd efgykvksa esa Hkh vk;ju dh deh gks ldrh gS vkSj mUgsa vfrfjDr vk;ju ysus dh t:jr iM+ ldrh gSA b&FkSyklhfe;k dk laokgd gksus ds dkj.k xHkkZoLFkk ds nkSjku FkksM+h lh jDrkYirk Hkh T;knk [krjukd gks ldrh gS vkSj dHkh&dHkh [kwu p<+kus dh Hkh ukScr vk ldrh gSA cPps ds tUe ds ckn jDrkYirk esa lq/kj gks tkrk gSA

D;k dksbZ ,slk mipkj gS] ftlls O;fDr dks laokgdrk ls NqVdkjk fey tk,\

b&FkSyklhfe;k ds lkFk iSnk gq, O;fDr dks thou Hkj blds lkFk jguk gksxkA

D;k b&FkSyklhfe;k ds y{k.k ckn esa fdlh mez esa ,d O;fDr ls nwljs O;fDr esa lapkfjr@izkIr fd, tk ldrs gSa\

b&FkSyklhfe;k ds y{k.k okrkoj.k] [kwu p<+kus (blood transfusion) ;k laØe.k (infection) ds fdUgha nwljs lk/uksa }kjk ,d O;fDr ls nwljs O;fDr esa ugha tk ldrsA

D;k b&FkSyklhfe;k ds laokgd jDrnku dj ldrk gS\

;fn b&FkSyklhfe;k ds laokgd ds gheksXyksfcu dk Lrj jDrnku lacaèkh jk"Vªh; ekinaM ij [kjk mrjrk gks] rks og jDrnku dj ldrk gSA

;fn b&FkyS klhfe;k dk loa kgd cPpk inS k djuk pkg]s rk sml sD;k djuk pkfg,\

mUg asviu s ikVuZ j dk s crkuk pkfg, fd lHa kor% og b&FkSyklhfe;k d s loa kgd g S vkjS mUg asviu sikVuZ j l sHkh ghekXsykfscu&lca /a h chekfj;k asdk irk dju sd sfy, [kuw dh tkpa djku sd sfy, dguk pkfg,A ,ls k xHk Z /kj.k dju s d s igy s gh djuk pkfg,A ;fn mudk ikVuZ j Hkh b&FkSyklhfe;k dk loa kgd g]S rk sT;knk tkudkjh d sfy, mUg asfdlh fo'k"skK lykgdkj l slykg yus h pkfg,A

D;k loa kgd dk svkjS Hkh dNq djuk pkfg,\

loa kgd dk sbl ckj se asviu sHkkb@Zcgu dk sHkh crkuk pkfg, vkjS mUga sgheksXyksfcu&laca/h chekfj;ksa dk irk djus ds fy, [kwu dh tkap djkus dh lykg Hkh nsuh pkfg,A

tSlk fd mQij crk;k x;k gS fd b&FkSyklhfe;k dk laokgd gksuk LokLF; ij dksbZ foijhr vlj ughaa Mkyrk] vxj og fdlh vU; laokgd ds lkFk viuk ifjokj clkuk pkgrk gS] rks izR;sd xHkZ/kj.k ds le; fuEufyf[kr laHkkouk,a gSa%&

b&

ekrk&firk nksuksa izHkkfor Xyksfcu thu ds laokgd& ,d ¶tksf[ke&iw.kZ tksM+k%&

b&

pkj e as l s ,d ;kfu 25 » lHa kkouk g S fd cPpk ets j (xHa khj)@bVa jehfM;k (eè;e)] dkiQh xHa khj b&FkyS klhfe;k l s ihfMr+ gkxs kA ets j @ bVa jehfM;k] b&FkyS klhfe;k dk s efsMVjs fsu;u ,ufse;k ;k dyw ht + (Cooley's) ,ufse;k d s uke l s tkuk tkrk g S rFkk jkxs h dk s b&FkyS klhfe;k l s ihfMr+ gkus s d s dkj.k gkes kts k+bxl (homozygous) Hkh dgk tk ldrk gAS

nks esa ls ,d ;kfu 50 » laHkkouk gS fd cPpk b&FkSyklhfe;k dk laokgdgksxk] rFkk blds bykt dh dksbZ t:jr ugha gksxhA vkSj

pkj esa ,d ;kfu 25 » laHkkouk dk cPpk bl chekjh ls iwjh rjg vizHkkfor gksxkA (vkdfr 2)

bl :i esa] d vkSj b nksuksa gh thu lqpk: :i ls dk;Z ugha dj jgh gksrh gS vkSj ;g fLFkfr g&Ja[kyk ds vf/d mRiknu ls vkaf'kd :i ls (dqN gn rd) larqfyr gksrh gSA

b&FkSyklhfe;k ds laokgd dh rjg db&FkSyklhfe;k dk laokgd Hkh LoLFk jgrk gS] vkSj mls fdlh Hkh bykt ds t:jr ugha gksrh] ysfdu izHkkfor thu ekrk@firk ls cPpksa esa igqap ldrh gSA ;fn fdlh cPPks dks laokgd ekrk&firk esa ls izR;sd ls ,d&,d db thu ;k ekrk&firk esa ls fdlh ,d ls db thu vkSj nwljs ls b&FkSyklhfe;k thu vuqokaf'kd :i ls feyrh gS] rks cPps dks gheksXyksfcu&laca/h xaHkhj chekjh gks tk,xh rFkk blds urhts vkSj bykt b&FkSyklhfe;k estj ;k b&FkSyklhfe;k baVjehfM;k tSls gh gksaxsA

dbZ vU; vlkekU; izdkj dh O;Ld gheksXyksfcuksa dh igpku dh xbZ gS] tks cukoV vkSj jksx&laca/h ifj.kke nksuksa nf"Vdks.k ls ,d&nwljs ls vyx gSa] bUgsa lajpukRed gheksXyksfcu :ikarj ds :i esa Hkh tkuk tkrk gS vkSj blesa fldy lsy chekjh ds fy, ftEesnkj gheksXyksfcu&,l (HbS)] gheksXyksfcu&bZ (HbE)] gheksXyksfcu&lh (HbC)] gheksXyksfcu&Mh (HbD) vkSj gheksXyksfcu ysiksj (Hb Lepore) 'kkfey gSaA ;g ekrk&firk ls cPpksa dks vuqokaf'kd :i esa Bhd mlhs izdkj feyrs gSa] ftl izdkj] bl cqdysV esa igys dh xbZ ppkZ ds eqrkfcd b&FkSyklhfe;k izkIr gksrk gSA fiQj Hkh] dsoy mUgha cPpksa] tks ekrk&firk nksuksa ls gheksXyksfcu ysiksj ;k gheksXyksfcu&,l izkIr djrs gS] esa blds bykt dh t:jr gksrh gSA

db&FkSyklhfe;k

vU; vlkekU; gheksXyksfcu vkSj gheksXyksfcu laca/h chekfj;k¡

11b&FkSyklhfe;k

b12

laHkkouk,a%

vkÑfr 2

lkekU;b&FkSyklhfe;k

ekrk&firk nksuksa b&FkSyklhfe;k ds laokgd gksa

25 izfr'krlkekU;

50 izfr'krb&FkSyklhfe;k

laokgd

25 izfr'krb&FkSyklhfe;kxaHkhj chekjh ls xzflr

&FkSyklhfe;k

ekrk&firk nksuksa ls vuqokaf'kd :i las izkIr vU; vlkekU; gheksXyksfcuksa (HbC ;k HbD ;k HbE) dk dksbZ egRoiw.kZ urhtk ugha gksrk gS vkSj blds bykt dh Hkh t:jr ugha gksrhA gkaykfd ekrk&firk esa ls fdlh ,d ls fofHkUUk gheksXyksfcuksa (Lepore, E, S) dh vkSj nwljs ls b&FkSyklhfe;k dh vuqokaf'kd :i ls izkfIr ds ifj.kkeLo:i Hb Lepore@b] HbE@b vkSj HbS@b tSlh gheksXyksfcu leL;k,a iSnk gks tkrh gSa] tks b&FkSyklhfe;k estj@ baVjehfM;k dh gh rjg egRoiw.kZ jDr chekfj;ka gksrh gSa vkSj buds bykt dh t:jr gksrh gS] vlkekU; vkSj lajpukRed gheksXyksfcu :ikarj ds laca/ esa vkSj tkudkjh uhps nh xbZ gSA

bl :i esa b vkSj d thuksa dk nksckjk iquO;ZoLFkk (rearrangement) gksrk gS] ftlls gheksXyksfcu ysiksj (Lepore) uke dh ,d vlkekU; gheksXyksfcu curh gSA b&FkSyklhfe;k ds laokgd dh rjg gheksXyksfcu ysiksj dk laokgd Hkh ,d LoLFk O;fDr gksrk gS vkSj mls fdlh bykt dh t:jr ugha gksrh gSA gkaykfd izHkkfor thu ekrk&firk ls muds cPpksa esa vuqoakf'kd :i ls mlh izdkj igq¡p ldrh gS] ftl izdkj b&FkSyklhfe;k ds ekeys esa vuqoakf'kd izkfIr gksrh gSA vxj dksbZ cPpk ekrk&firk nksuksa ls vuqokaf'kd :i ls Hb Lepore izkIr djrk gS vFkok ekrk&firk esa ls ,d ls Hb Lepore vkSj nwljs ls b&FkSyklhfe;k ds thu izkIr djrk gS] rks ml cPps esa b&FkSyklhfe;k estj dh rjg gheksXyksfcu&laca/h xaHkhj chekjh (fodkj) iSnk gks tk,xh vkSj bl izdkj] mls blh rjg ds bykt dh t:jr gksxh] tSlh b&FkSyklhfe;k ds ekeys esa gksrh gSA

gheksXyksfcu&bZ lcls T;knk ik, tkus okys vlkekU; gheksXyksfcu esa ls ,d gS] [kkldj nf{k.k iwoZ ,f'k;k ewy ds yksxksa esa ;g T;knk ikbZ tkrh gSA b&FkSyklhfe;k ds laokgd dh rjg ghekXsykfscu&b Zdk loa kgd ,d LoLFk O;fDr gkrs k g SvkjS ml sfdlh bykt dh t:jr ugh agkrs hA

gkyakfd izHkkfor thu ekrk&firk ls muds cPpksa esa vuqokaf'kd :i ls mlh izdkj igq¡p ldrh gS] ftl izdkj b&FkSyklhfe;k ds ekeys esa (bldk mYys[k igys fd;k tk pqdk gS) gksrh gSA vxj dksbZ cPpk nks gheksXyksfcu&bZ thuksa ;kfu ekrk vkSj firk nksuksa ls ,d&,d] vuqokaf'kd :i ls izkIr djrk gS] rks Hkh og LoLFk jgsxk vkSj mls fdlh bykt dh t:jr ugha gksxhA

gheksXyksfcu&bZ rc egRoiw.kZ gks tkrk gS tc dksbZ cPpk ekrk&firk esa ls fdlh ,d ls b&FkSyklhfe;k dh rFkk nwljs ls gheksXyksfcu&bZ laokgdrk izkIr djrk gSA

HbE/b&FkyS klhfe;k ,d xHa khj fodkj g]S ftld s funku d s y{k.k b&FkyS klhfe;k baVjehfM;k tSls gksrs gSaA ysfdu ;g brus xaHkhj gks ldrs gSa tSls dh FkSyklhfe;k estj esa ns[ks tk ldrs gSaA

Hb Lepore/ &FkSyklhfe;k

gheksXyksfcu&bZ (HbE)@b&FkSyklhfe;k

b

13b&FkSyklhfe;k

vkd`fr 3

14

gheksXyksfcu&bZ (HbE) vkSjb&FkSyklhfe;k

lkekU;b&FkSyklhfe;kgheksXyksfcu&bZ

laHkkouk,a%

25 izfr'krlkekU;

25 izfr'krb&FkSyklhfe;k

laokgd

25 izfr'krgheksXyksfcu&bZ

laokgd25 izfr'kr

gheksXyksfcu&bZ@b

b&FkSyklhfe;k

fldy lsy chekjh] dkj.k vkSj jksx&laca/h ifj.kke esa &FkSyklhfe;k ls fHkUu gksrs gS vkSj budh ppkZ foLrkj ls cqdysV 3 esa dh xbZ gSA

ekrk&firk esa ls ,d ls b&FkSyklhfe;k y{k.kksa vkSj nwljs ls gheksXyksfcu&,l dh vuqokaf'kd izkfIr ls gheksXyksfcu&laca/h chekfj;ka (HbS/b) iSnk gksxh] buds ifj.kke fldy lsy chekjh ds leku gh gkssaxsA ;g fldy lsy chekjh b&FkSyklhfe;k estj@baVjehfM;k ls cgqr vyx gksrh gS] blfy, bldk bykt Hkh vyx rjhds ls fd;k tkrk gSA (vf/d tkudkjh ds fy, cqdysV 3 ns[kasa )

b

T;knkrj ekeyksa esa] vklku vkSj [kkl yscksjsVjh&tk¡p }kjk irk yxk;k tk ldrk gS fd fdlh O;fDr esa b&FkSyklhfe;k ;k gheksXyksfcu&laca/h fdlh nwljh chekjh ds y{k.k gSa ;k ugha] tk¡pksa ds igys vkSj ckn] vuqokaf'kdrk ds laca/ esa fo'ks"kKksa ls lykg (tSls& ekU; ,oa uohure tkudkfj;ka vkSj ekxZn'kZu miyC/ djkuk) djus ls bl ij jksdFkke ds fuEufyf[kr egÙoiw.kZ igyqvksa ds ckjs esa tkudkjh izkIr gksxh%

tk¡p dgka djkbZ tkuh pkfg,\

tk¡p ds ifj.kkeksa ls D;k irk gksrk gS\

laokgd gksus dk D;k eryc gksrk gS\

vxj ifr&iRuh nksuksa laokgd gksa] rks dkSu&dkSu ls fodYi miyC/ gSa\

b&FkSyklhfe;k estj dh izÑfr vkSj mipkj

FkyS klhfe;k ds fy, ycs kjs Vs jh&tkp¡ ea s lk/kj.k (routine) [kuw &tkp¡ dh tkrh g]S ftls dEIyhV CyM dkmVa (CBC) ds uke ls tkuk tkrk gAS bl tkp¡ ls ;g irk yxk;k tkrk gS fd yky jDr dkfs'kdkvka s ea s ghekXs ykfscu dh ek=kk fdruh gS vkjS yky jDr dkfs'kdkvka s dk vkdkj ,oa okYW ;ew fdruh g]S ftUga s Øe'k% ehu dkiW lZ D;yw j ghekXs ykfscu ,oa ehu dkiW lZ D;yw j okYW ;ew (MCV) ds uke ls tkuk tkrk gAS b&FkyS klhfe;k ds loa kgd O;fDr;ka s ea sbu nkus ka s dh ek=kk de gkxs hA

yky jDr dkfs'kdkvka s ds vkdkj ,oa Lo:i dh tkp¡ djus ds fy, bUga s ekbØkLs dkis }kjk n[s kk tkrk gAS b&FkyS klhfe;k loa kgd O;fDr;ka s dh yky jDr dkfs'kdk,a FkkMs s + de yky jxa dh gkxas h vkjS dbZ Lo:ika s (poikilocytosis) ea s gkxas h rFkk vkdkj ea s NkVs h (microcytosis) gkxas h] tcfd lkekU; yky jDr dkfs'kdk,a Lo:i ea s xgjh yky] xkys kdkj vkjS vory (concave) gkrs h gAaS

dkbs Z O;fDr &FkyS klhfe;k dk loa kgd gS ;k ugh]a ;g tkuus ds fy, ycs kjs Vs jh&tkp¡

b

(MCH)

dkbs Z O;fDr loa kgd g S ;k ugh]a bldk irk dlS s pyxs k\

15b&FkSyklhfe;k

b16

fdlh O;fDr e asb&FkyS klhfe;k d s y{k.kk asdh ektS nw xh d s ckj s e astkuu s d s fy, fd, tku s okyh dNq tkpa k ase asl s,d ycs kjsVs jh&çkls ls gkrs k g]S ftl sghekXsykfscu byDs Vkªis Qkjsfsll (Hb electrophoresis) ds uke ls tkuk tkrk gAS bl ifzØ;k l s d s Øe'k% iez [q k vkjS NkVs s ?kVdk]as ghekXsykfscu&, (HbA) vkjS ghekXsykfscu&,2 (HbA2) dh ek=kk dk irk pyrk gAS o;Ld yky dkfs'kdkvk as (adult red cells) e as ektS nw vU; ghekXsykfscu] tlS &as Hk.wz k ghekXsykfsca u (HbF) vkjS ghekXs ykfscu&,l (HbS) ekeyka s e]as dkbs Z O;fDr loa kgd gS ;k ugh]a bldk irk djus ds fy, mQij crkbZ tkpa a s dkiQh gAaS

HbA2 dh ek=kk tks b- FkSyklhfe;k laokgdkas esa vDlj c<+ tkrh gS] ekius dk ,d nwljk rjhdk uke ls tkuh tkus okyh ,d [kkl yscksjsVjh rduhd (technology) gSA bl tk¡p dk bLrseky gheksXyksfcu ds :ikarjksa (fofHkUu izdkj ds gheksXyksfcu) dk irk djus ds fy, Hkh fd;k tkrk gSA viuh mPp laosnu'khyrk ,oa fof'k"Vrk vkSj [kkldj] rst xfr ls nSfud ifj.kke nsus ds dkj.k vktdy bls gheksXyksfcu ls lacaf/r chekfj;ksa dk irk yxkus dh lcls egRoiw.kZ rduhd ekuk tkrk gSA

tc mijksDr tk¡pksa ls fuf'pr rkSj ij dqN irk ugha yx ikrk gS vkSj bu tk¡pksa ds vk/kj ij yscksjsVjh ds oSKkfud chekjh dh iqf"V djus esa l{ke ugha gksrs gaS] blfy, vkSj nwljh [kkl izdkj dh tk¡pas miyC/ gSa] tSlas& vuqoaf'kd tk¡pas ;kfu O;fDr ds Mh,u, ds ijh{k.k ij vk/kfjr tk¡psaA bl tkap esa] fuf'pr urhts ij igq¡pus ds fy, ifjokj ds vU; lnL;ksa ds [kwu dh Hkh tk¡p djus dh vko';drk gksrh gSaA

dbZ voljksa ij] O;fDr esa vk;ju dh deh ds dkj.k chekjh dh lgh <ax ls igpku (diagnosis) ugha gks ikrh gSA ,slh fLFkfr esa] O;fDr dks dqN vk;ju dh xksfy;k¡ nsuk vkSj de ls de ,d eghus ckn nksckjk tkap ds fy, cqykuk t:jh gks tkrk gSA blds ckn chekjh gksus dk irk py ldrk gSA

laokgd ifr&iRuh (tksM+k)] tks vius cPpksa dks gksus okys tksf[ke ls okfdiQ (ifjfpr) gSa] ds ikl vktdy dbZ mik; gSaA og LoLFk cPpksa dks tUe nsus vkSj izHkkfor cPpksa ds fy, miyC/ lcls vPNh ns[kHkky ds fy, dbZ dne mBk ldrs gSaA muds fodYi fuf'pr :i ls vklku

ugha gSaA izR;sd tksM+k vkSj lkekU; ukxkfjd] jk"Vªh; LokLF; izkf/dkj.kksa vkSj jksfx;ksa@jksfx;ksasa ds lgk;d lewgksa ls fo'oluh;] foLrr vkSj ubZ tkudkfj;k¡ izkIr dj ldrs gSaA laokgd ekrk&firk dks vius tksf[ke ds ckjs esa tYn ls tYn irk py tkuk pkfg, rkfd vius ckjsa esa lgh iQSlyk djus ds fy, muds ikl dkiQh le; gksA

LokLF; lsok miyC/ djkus okyksa dh fuEufyf[kr ftEesnkjh gksrh gS%&

gkbZLdwy esa ;k mlls igys ;k uo&fookfgrksa ds fy, xHkkZoLFkk ls igys ;k xHkZ/kj.k djrs gh laokgdrk tkap miyC/ djkukA

o;Ld ghekXsykfscu

] dk irk Hkh byDs Vkª is Qkjs fss ll }kjk yxk;k tk ldrk gAS T;knkrj

¶gkbZ izs'kj fyfDoM&ØksesVksxzkiQh (HPLC)*

muds fodYi fuf'pr :i ls vklku ugha gSAa

D;k gheksXyksfcu&laca/kh chekfj;ksa dh jksdFkke dh tk ldrh gS\

* Bio-Red HPLC for example is considered by many as Gold Standard for Hb determaination

&FkSyklhfe;k

laokgdksa dks mfpr tkudkfj;k¡ miyC/ djkuk vkSj mUgsa lykg nsuk fd muds ikVZuj

(;k ifr) ds fy, laokgdrk dh tk¡p djkuk fdruk t:jh gAS

loa kgd tkMs k+ as (tkfs[ke i.w k Z tkMs k+)as dk s tkudkjh nus k& vxj ifr&iRuh nkus k asb&FkyS klhfe;k

d s loa kgd gk]as rk sghekXsykfscu&lca /a h chekfj;k asd sfo'k"skK (;k ,d fo'k"skK vuoq kfa'kdrk&lca /a h

lykgdkj (specialist genetic counselor)) l s feyu s dh t:jr gkrs h gAS ;g

fo'k"skK mUg astkfs[ke dh lgh fLFkfr vkjS miyC/ mik;k asdh tkudkjh nxs kA

tUe&iow Z igpku (antenatal diagnosis) l s lca fa/r

(obstetrician) Hkh tkMs k asdk smiyC/ ifzØ;kvk asd sckj se asvkjS iHz kkfor cPpk inS k dju sl s

cpu sd sgj lHa ko mik;k aasdh foLrr tkudkjh n sldrk gAS bld svykok] vxj Hk.wz k (fetus)

dh tUe&iow Z tk¡p d s ifj.kkek as dk è;ku fd, fcuk] lHa kkfor ekrk&firk cPpk inS k dju s d s

iQlS y sij dk;e jguk pkgr sg]S rk smUg asvkt dh rkjh[k e asFkyS klhfe;k d smipkj@n[s kHkky d s

fy, fpfdRlk foKku }kjk miyC/ djk, x, fodYik asdh tkudkjh vo'; nh tkuh pkfg,A

vxj nks ikVZuj ds chp laca/ py jgs gksa vkSj mUgsa bl ckr dh tkudkjh gks fd og

b&FkSyklhfe;k ds laokgd gSa] rks os bldh ijokg fd, fcuk 'kknh djus ;k 'kknh ugha djus

dk iQSlyk ys ldrs gSa] vxj nksuksa ikVZuj b&FkSyklhfe;k ds laokgd gSa vkSj igys ls gh

'kknh'kqnk gSa] rks os fuEufyf[kr ckrsa dj ldrs gSa%&

cPps iSnk u djsa vFkok viuk cPpk u gksus nsA

cPpk xksn ysaA

fdlh xSj&laokgd nkrk ds oh;Z ls df=ke :i ls xHkZ/kj.k }kjk cPps iSnk djsaA

pkg stk sgk stk,] cPpk inS k djuk vkjS Hk.wz k dh fLFkfr tku scxjS xHk/Z kj.k djukA

;g irk py tkus ds ckn fd Hkzw.k b&FkSyklhfe;k estj ;k ghekXyksfcu&laca/h vU;

xaHkhj chekfj;ksa ls izHkkfor gS] xHkZ tkjh j[kukA

Hkzw.k ds izHkkfor gksus dh ckr irk py tkus ij xHkZ [kRe dj nsukA

izlwfr fo'ks"kK

fdlh tksf[keiw.kZ tksM+s ds fy, miyC/ mik;& tc nksuksa ikVZuj

b&FkSyklhfe;k ds laokgd gksaA

17b&FkSyklhfe;k

b18

FkSyklhfe;k flaMªkse vkSj gheksXyksfcu&ls tqM+h vU; chekfj;ksa ds fy, Hkzw.k dh tk¡p

(i),fEu;kslsaVsfVl (Amniocentesis)

(ii) dkWMksZlsaVsfll (Hkzw.k ds jDr dk uewuk ysuk) (Cordocentesis)

dksbZ vtUek (tks vHkh isV esa gh gS) cPpk &FkSyklhfe;k estj ;k baVjehfM;k ls izHkkfor gS ;k ugha] ;g r; djus ds fy, rhu izdkj dh tk¡psa dh tkrh dh tkrh gSa%&

,fEu;kslsaVsfVl xHkkZ/ku ds 15 lIrkg ds ckn xHkkZoLFkk dh nwljh frekgh esa dh tkrh gSA vYVªklkmaM ds fn'kk&funsZ'k dk bLrseky djrs gq, dksbZ izf'kf{kr izlwfr fo'ks"kK ekrk ds isV esa ,d iryh lwbZ Mkydj FkksM+k lk ,efu;ksfVd nzo] ftlesa Hkzw.k dh dksf'kdk,¡ (fetal cells)gksrh gSa] ckgj fudkyrk gSA blds ckn] yscksjsVjh esa bldk ijh{k.k djds ;g irk fd;k tkrk gS fd Hkzw.k b&FkSyklhfe;k (estj ;k baVjehfM;k) ls izHkkfor gS ;k ughaA

bl tk¡p dh otg ls ekrk ;k Hkzw.k dks gksus okys tksf[ke [kkl ugha gSaA blls xHkZikr (miscarriage) dk FkksM+k tksf[ke jgrk gS- tks 1%200&1%400 (0-5» ls de) ekeyksa esa gh gksrk gSA gkaykfd izlwfr fo'k"skK ds lkFk ppkZ djds bl tk¡p ds lHkh igyqvksa dks le>k tk ldrk gSA

vYVªklkmaM dk bLrseky djrs gq, Hkzw.k ds vEcfydy dkWMZ (umbilical cord) esa] isV ds jkLrs ls ,d ckjhd lwbZ Mkyh tkrh gS] ftlds ekè;e ls [kwu dh ,d NksVh ek=kk yh tkrh gSA Hkzw.k ds jDr (fetal blood) dks vyx djds yscksjsVjh esa bldk ijh{k.k fd;k tkrk gSA T;knkrj ekeyksa esa dq'ky gkFkksa }kjk igys iz;kl esa gh 100 izfr'kr 'kq¼ Hkwz.k dksf'kdk,¡ izkIr gks tkrh gSaaA 'kq¼ Hkzw.k jDr izkIr djus esa foiQyrk ds dkj.kksa vkSj bl izfØ;k ds nkSjku vU; laHkkfor tksf[keksa ds ckjs esa tUe ls igys dh tkap esa [kkl ;kXs;rk j[ku ssoky silz fwr fo'k"skK gh foLrkj l sle>k ldr sgAaS

dkWMksZlsaVsfll xHkkZoLFkk ds 18 lIrkg ckn fd;k tkrk gSA blesa xHkZikr (miscarriage)(1&2»)] jDr&L=kko (bleeding)] laØe.k (infection) vkSj ,fEu;ksfVd nzo dk fjlko tSlsa tksf[ke 'kkfey gksrs gSA

ekWfyD;wyj rjhdksa ls le; jgrs [kkl igpku (diagnosis) us yxHkx

iwjh rjg dkWMksZlsVsafll dh txg ys yh gSA dkWMksZlasVsfll dh lykg vktdy dsoy

b

,fEu;kslsaVsfVl dkWMksZlsaVsfll

&FkSyklhfe;k

mu xHkZorh efgykvksa dks nh tkrh gSa] ftUgksaus nsj ls fjiksZV dh gks] ;k ftuds lh oh ,l (uhps ns[ksa) dk dksbZ fuf'pr urhtk ugh fudy ik;k gks] rFkk bldh lykg rc Hkh nh tkrh gS] tc tksf[keiw.kZ tksM+ksa ds ckjs esa dksbZ fiNyh tkudkjh miyC/ ugha gksA

lh oh ,l Hkzw.k esa gheksXyksfcu&laca/h chekfj;ksa dk irk yxkus dk ,d rjhdk gSA ;g ,fEu;kslsaVsfll ls igys xHkkZ/kj.k ds yxHkx 10&11 gÝrs ckn fd;k tk ldrk gSA blesa izlwfr&fo'ks"kK vYVªklkamM dh lgk;rk ls ¶dkWfjvksfud foykbZ ;kfu Hkzw.k ds leku gh thu&laca/h tkudkjh j[kus okyh dksf'kdk,¡ tks ckn esa IyslsaVk dk :i ys ysrh

gSa] dk FkksM+k lk uewuk ckgj fudky ysrh gS- ;g dksf'kdk,¡ ek¡ ds isV ds jkLrs (transabdomial) ,d iryh lwbZ ;k ;ksfu ds jkLrs (transcervical) ,d iryk dSFksVj Mkydj ckgj fudkyh tkrh gSaA blds ckn dksf'kdkvksa dk fo'ys"k.k (analysis) djds irk yxk;k tkrk gSA igys crkbZ xbZ izfØ;kvksa ds eqdkcys blesa xHkZikr dk FkksM+k (2» rd) tksf[ke jgrk gS vkSj blls Hkh FkksM+k de tksf[ke jDr&L=kko ;k laØe.k dk jgrk gSA blds vykok cgqr FkksM+k tksf[ke vax dk :i fcxM+us (limb abnormalities) dk jgrk gS] gkaykfd bldh laHkkouk yxHkx ugha ds cjkcj gks tkrh gS] vxj lh oh ,l 10 lIrkg ckn fd;k tkrk gSA tUe ls igys chekjh dk irk yxkus ds vU; rjhdksa dh gh rjg] bl izfØ;k dk bLrseky djrs gq, izlwfr fo'ks"kK }kjk tksM+ks dks laHkkfor tksf[keksa vkSj iQk;nksa dh tkudkjh nh tkrh gSA

,fEu;kslsaVsfll vkSj lh oh ,l nksuksa Mh,u, ij vk/kfjr gSa] ftUgsa vuqokaf'kd (genetic) tkap ds :i esa Hkh tkuk tkrk gS vkSj blesa ekrk&firk esa ekStwn vuqokaf'kd ifjorZu (mutation) dh igpku dh tkrh gSaA bl rjg dh tk¡p esa ekrk&firk ls vuqokaf'kd :i ls feyh chekfj;ksa dk irk yxkus ds fy, lcls lVhd lk/uksa dk bLrseky gksrk gSA fiQj Hkh] tSlk fdlh Hkh tk¡p ds lkFk gks ldrk] blesa FkksM+h laHkkouk yscksjsVjh esa gqbZ Hkwy dh Hkh jgrh gS] ysfdu ,slk cgqr de gh gksrk gSA

lh oh ,l ds ekeys esa] elyu iz;ksx'kkyk&foKkuh dkWfjvksfud foykbZ dh dksf'kdkvksa ds Mh,u, esa ikbZ tkus okyh gheksXyksfcu thuksa dk vè;;u ;g tkuus ds fy, djrs gSa fd cPps dh thu ij dksbZ vlj rks

(iii) dkWfjvksfud foyl lSaifyax (Chorionic villus sampling)(

mijksDr rjhdksa ls uewus izkIr djus ds ckn Hkzw.k dh igpku dSls dh tkrh gS

lh oh ,l)

vkerkSj ij uewus dk fo'ys"k.k djus esa yxHkx ,d lIrkg dk le; yxrk gSA

19

lh oh ,l

b&FkSyklhfe;k

b20

ugha iM+k gS vkSj og LoLFk jgsxk vkSj dgha og FkSyklhfe;k dk laokgd rks ugha gksxk ;k dgha mldh gheksXyksfcu thuksa ij vlj rks ugha gksxk vkSj og b&FkSyklhfe;k ls ihfM+r rks ugha gks tk,xkA

vkerkSj ij uewus dk fo'ys"k.k djus esa yxHkx ,d lIrkg dk le; yxrk gSA

vxj tkp¡ l s ;g irk pyrk g S fd cPpk iHz kkfor g S rk s ekrk&firk ;g le>r s g,q fd mld s fy, thou Hkj mipkj dh t:jr gkxs h] xHk Z dk s tkjh j[ku s dk iQlS yk y s ldr s g aS;k igy s dh xb Z ppk Zd s vulq kj xHk Z dk s lekIr dju s dk iQlS yk y s ldr s gAaS gkya kfd vxj xHk Z dk s lekIr dju s dk iQlS yk fy;k x;k gk srk sxHkkZoLFkk dh fLFkfr dk sn[s kr sg,q ,ls k nk srjhdk asl sfd;k tk ldrk gAS

tksM+s dks bl laca/ esa lHkh tkudkfj;ka nh tkuh pkfg, vkSj muds Mj vkSj fparkvksa dks mfpr ijke'kZ nsdj nwj djuk pkfg,A mUgsa izlwfr fo'ks"kK ;k lykgdkj (counselor) }kjk ;g crk;k tkuk pkfg, fd xHkZ [kRe djus ls muds fiQj cPpk iSnk djus dh laHkkouk esa dksbZ deh ugha vk,xh vkSj vxj dksbZ tksf[keiw.kZ tksM+k nksckjk xHkZ /kj.k djrk gS rks izHkkfor cPpk iSnk djus dh laHkkouk mruh gh gksxhA

blds vykok] vxj tksM+k tkuuk pkgs] rks lkiQ rkSj ls ;g crk;k tkuk pkfg, fd vxyh ckj xHkZorh gksus ij xHkZ esa iy jgk cPpk FkSyklhfe;k ls izHkkfor gS ;k ugha] ;g tkuus ds fy, tUe ls igys nksckjk tk¡p dh t:jr gksxh vkSj blds fy, fcYdqy ogh izfØ;k,a viukbZ tk,axh rFkk iQk;ns ,oa tksf[ke Hkh leku gksxsaA

;g izlo dbZ ?kaVksa rd py ldrk gS] tks izkjaHk esa xHkZ lekIr djus dh rjhds dh rqyuk esa] efgyk dks T;knk ekufld rdyhiQ nsrk gSA xHkZ lekIr djus esa gqbZ nsjh ls efgyk ds nksckjk xHkZorh gksus dh laHkkouk ij dksbZ vlj ugha iM+rk rFkk lHkh tkudkfj;k¡ vkSj blls lacaf/r lokyksa ds tokc izlwfr fo'ks"kK ls yh tk ldrh gSaA

tUe ls igys gksus okyh jksx dh igpku (prenatal diagnosis) vkSj xHkZ lekIr djus ds rjhds gj tksf[keiw.kZ tksM+s ;k dqN leqnk;ksa dks vius /kfeZd ,oa lkaLdfrd pyuksa ds dkj.k Lohdk;Z ugha Hkh gks ldrs gSA

xHkZ lekIr djuk

izkajfHkd voLFkk esa xHkZ lekIr djuk vxj efgyk 14 lIrkg ls de dh xHkZorh gks] rks 'kq:vkrh nkSj esa xHkZikr djk;k tk ldrk gS]

nsj ls xHkZ lekIr djuk

14 lIrkg ls vf/d dh xHkZorh efgyk ds xHkZ dks [kRe djus ds fy, gkeksZu (izksLVXySafMu) nsdj xHkZorh efgyk esa izlo (delivery) dh fLFkfr iSnk dh tkrh gSA

vU; rjhdas %

&FkSyklhfe;k

cnfdLerh ls] tUe&iwoZ tk¡p vkSj xHkZ dks lekIr fd, fcuk dsoy laokgdksa dh igpku vkSj LØhfuax ds lgkjs bldh liQy vkSj izHkkoh jksdFkke ugha dh tk ldrhA n[ky vkSj euksoSKkfud ncko dks de djus vkSj dqN leqnk;ksa ,oa [kkl tksM+ks ds chp bUgsa Lohdk;Z cukus ds fy, dqN vU; rjhds fodflr fd, x, gSa] tcfd dqN rjhdksa ij vHkh 'kks/ (research) py jgk gSA mnkjg.k ds fy,] ek¡ ds jDr esa ?kweus okyh (circulating) Hkzw.k&dksf'kdkvksa dk fo'ys"k.k ,d ,slh tk¡p gS] ftlij fiNys n'kd esa] egRoiw.kZ 'kks/ djus ij è;ku fn;k x;k gSA gkaykfd bldh viuh lhek, ¡ g]aS vkjS vkt dh rkjh[k e]as ;g Hkjkls es na tUe&iow Ztkp¡ dh txg ugh ay sldrk gAS

izh&bEIykuVs'ku tsusfVd Mk;Xuksfll (Pre-implantation genetic diagnosis) (ih th Mh) fiNys n'kd esa fodflr dh xbZ ,d vU; yscksjsVjh izfØ;k gS] ftlesa 'kq:vkrh Hkzw.k ls yh xbZ dksf'kdkvksa ;k laokgd ekrk ls fy, x, gheksXyksfcu&laca/h [kjkfc;ksa ls eqDr vaMk.kq dk fo'ys"k.k djus ds fy, VsLV V~;wc esa (in-vitro) fu"kspu (fertilisation) dk bLrseky fd;k tkrk gSA blds dkiQh egaxh rduhd gksus vkSj liQy xHkkZoLFkk ds fy, vDlj dbZ iz;kl djus dh t:jr gksus ds ckotwn] ih th Mh dks tUe&iwoZ igpku dh ryq uk e asykxs k]as [kkldj og ykxs tk s xHk Z lekIr dju s d s f[kykiQ g]aS u sT;knk Lohdkj fd;k gAS

gksekst+kbxl b&FkSyklhfe;k ls ihfM+r yksx lkekU; <ax ls gheksXyksfcu ugha cuk ikrs gS] blfy, og lkekU; yky jDr dksf'kdk,¡ Hkh ugh cuk ikrs gSaA izR;sd yky jDr dksf'kdk esa lkekU; ls cgqr de gheksXyksfcu gksrh gS vkSj budh la[;k lkekU; ls cgqr de gksrh gSA blls [kwu dh deh gaks tkrh gS] tks b&FkSyklhfe;k ls ihfM+r O;fDr;kas es xaHkhj gksrh gS] tcdh b&FkSyklhfe;k baVjehfM;k ls ihfM+r O;fDr;kas es bldh xaHkhjrk de gks ldrh gSA

b&FkSyklhfe;k ls izHkkfor cPpk tUe ds le; lkekU; gks ldrk gS] ysfdu rhu ekg ls ,d o"kZ dh mez ds chp mles xaHkhj [kwu dh deh fodflr gaks ldrh gSA ;fn bldk bykt u fd;k tk, rks T;knkrj cPpksa dh cgqr de mez esa eR;q gks tkrh gSA T;knkrj ekeyksa esa b&FkSyklhfe;k ls de xaHkhj le>h tkus okyh b&FkSyklhfe;k baVjehfM;k ls ihfM+r jksxh xaHkhj [kwu dh deh ls ihfM+r gaksus ds ckotwn] de ls de thou ds 'kq#vkrh o"kks± es fu;fer :i ls [kwu&p<+k, (blood transfusion) fcuk Hkh dke pyk ldrs gSaA gkaykfd mez c<+us ds lkFk&lkFk [kwu dh deh dh fLFkfr vkSj [kjkc gksrh tkrh gS] rFkk cpiu ds vkf[kjh lkyksa esa ;k o;Ld gksus ij fu;fer :i ls [kwu ysus dh t:jr iM+ ldrh gSA b&FkSyklhfe;k estj

b&FkysS klhfe;k dk gkes kts kbxl gkus k ;k b&FkyS ls hfe;k ets j ¼efs MVjs fs u;u ,ufs e;k ;k dyw ht+ ,ufs e;k½ dk jkxs h gkus kA

21b&FkSyklhfe;k

b22

vkSj b&FkSyklhfe;kdbZ rjg dh chekfj;k¡ iSnk gks tkrh gSa vkSj buds fy, dbZ rjg ds byktksa dh t:jr gksrh gSA

bldk cqfu;knh bykt lkekU;r% gj pkj lIrkg ckn fu;fer :i ls [kwu p<+kuk gSA ftu cPpksa dks lgh rjg ls [kwu p<+k;k tkrk gS] og vPNh rjg c<+rs gSa vkSj lkekU; thou thrs gSaA fiQj Hkh 30 o"kZ ls vf/d thus ds fy, b&FkSyklhfe;k estj ds jksfx;ksa esa cpiu ls gh vko';drk ls vf/d vk;ju (iron, ykSg) ds gVkus ds fy, [kkl bykt dh Hkh t:jr iM+rh gSA vk;ju dh ;g vf/drk p<+kbZ xbZ (transfused) yky jDr dksf'kdkvksa] tks yxkrkj VwVrh jgrh gSa] dh gheksXyksfcu ls eqDr gksus okys vR;f/d vk;ju ds dkj.k gksrh gSA yxkrkj vk;ju c<+rs jgus ds dkj.k 'kjhj esa bldh ek=kk cgqr T;knk gks tkrh gS] tks varr% fny (heart)] fyoj (liver) vkjS vra %L=kkoh xfzFk;k as (endocrine glands) tlS s 'kjhj d segRoi.w k Zvxa k asdk s[kjkc dj nrs k gAS ]

vko';drk ls vf/d vk;ju dks [kkl nokb;ksa] ftUgsa vk;ju dhysfVUx ,tsaV~l dgk tkrk gS] }kjk ckgj fd;k tk ldrk gSA ;g nokb;k¡ vk;ju dks is'kkc@ik[kkus ds jkLrs ckgj fudky nsrh gSA lqjf{kr ,oa izHkkoh <ax ls bLrseky gksus okyk igyk vk;ju dhysfVUx ,tsaV fMliQsfjvkWDlkehu ;k MsliQsjy (Desferal) gSA bl nok dk batsD'ku ,d NksVs iai dk bLrseky djrs gq, dbZ ?kaVksa rd] yxHkx gj jkr dks Ropk esa yxk;k tkrk gSA cgqr eqf'dy vkSj nq[knk;d dke gksus ds ckotwn] ;g mipkj thou&j{kd lkfcr gqvk gSA

gkyakfd eq¡g ls fy, tkus okys u, vk;ju dhysfVUx ,tsaV ds miyC/ gks tkus ls fLFkfr esa /hjs&/hjs lq/kj gks jgk gSA eq¡g ls yh tkus okyh nks nokb;k¡] fMiQsjhizksu (Deferipone L1) vkSj fMiQsjkfljkWDl (Exjade) igys ls gh dbZ ns'kksa esa vkSipkfjd rkSj ij jftLVMZ gSa vkSj nqfu;k Hkj esa gtkjksa jksfx;ksa }kjk budk bLrseky fd;k tk jgk gSA

FkSyklhfe;k ds lkFk iSnk gq, cPpksa ls vkt mEehn dh tk ldrh gS fd os thou dh lkekU; vof/ rd thfor jgsa c'krsZ og blds fy, t:jh lkjs bykt fu;fer :i ls lgh <a+x ls djkrs jgsaA

[kwu p<+k;s tkus vkSj vk;ju dhys'ku ij fuHkZjrk dks vkf[kjdkj de dj ldus okys iQkekZL;wfVdy inkFkks± ds ekè;e ls FkSyklhfe;k estj ds bykt esa vkSj lq/kj ykus ds fy, dkiQh 'kks/ py jgk gSA vkt dh rkjh[k esa bl chekjh ls dsoy vfLFk eTtk ds iRz;kikjs .k (bone marrow transplant) (ch ,e Vh) }kjk gh NVq dkjk ik;k tk ldrk g S c'kr ±sjkxs h l sfcYdyq epS dju soky smld sfdlh Hkkb Z;k cgu dh igpku

baVjehfM;k ds jksfx;ksa esa xaaHkhj ,usfe;k ([kwu dh deh) ds vykok vU;

b&FkSyklhfe;k estj dk bykt D;k gS\

&FkSyklhfe;k

dh tk,] jksxh ds jksx dh gksA gkaykfd vis{kkdr cgqr de jksfx;ksa (yxHkx 20») dks gh iwjh rjg ls eSp djrk gqvk nkrk fey ik,xkA lkFk gh] vfLFk&eTtk izR;kjksi.k vHkh Hkh ,d eagxh izfØ;k gS vkSj bldh dke;kch dk Lrj mi;qDr nkrk (donor) vkSj jksxh dh chekjh dh voLFkk rFkk ch ,e Vh dsaUnz ds vuqHko ij fuHkZj djrk gSA

mi;qDr nkrk ryk'k djus esa gksus okyh fnDdrksa ds fy, ,d laHko mik; ;g gS fd ekrk&firk ,d vkSj cPpk iSnk djsa] tks thfor ,oa izHkkfor cPps ds vuqdwy (compatible) gksA gkykafd ;g lqfuf'pr djus ds fy, fd ;g u;k cPpk ,d vuqdwy nkrk gks] gky ds o"kks± esa ¶izh&baIykaVs'ku tsusfVd Mk;Xuksfll& HLA(PGD-HLA) uke dh ,d izfØ;k fodflr dh xbZ gSA blesa efgyk ds xHkZ esa vkjksfir fd, tkus okys Hkzw.kZ dk p;u yscksjsVsjh esa fd;k tkrk gSa vkSj bl ckr dk è;ku j[kk tkrk gS fd fiNys i`"Bksa esa mYysf[kr PGD rduhd dh gh rjg u dsoy ;g FkSyklhfe;k ls eqDr gks] cfYd blds mQrdksa (tissues) ds y{k.k ,oa xq.k (HLA type) fcYdqy oSls gh gks] tSls izHkkfor vkSj thfor cPps dk gSA blds fy,] tUe ds le; ¶vEcfydy dkMZ ls [kwu ysdj bldh dksf'kdkvksa dk bLres ky jksxh HkkbZ@cgu esa vkjksfir (transplant) djus esa fd;k tk,xkA nwljs 'kCnksa esa] izHkkfor HkkbZ@cgu ds fy, vkn'k Znkrk cuku sd sfy, uotkr cPp sdk puq ko 'k:q e asgh dj fy;k tkrk gAS

;g ,d eqf'dy izfØ;k gS] ftls uSfrd :i ls lHkh yksx Lohdkj ugha djrs gSa] ysfdu fiQj Hkh ;g izfØ;k b&FkSyklhfe;k estj vkSj vU; xaHkhj vuqoaf'kd chekfj;ksa ls futkr fnykus ds fy, eSp djrk gqvk nkrk miyC/ djkus esa csgrj gSA

FkSyklhfe;k dk liQy (final) bykt ,d vU; oSKkfud izfØ;k] ls feyus dh vk'kk gS] bl ij vHkh Hkh iz;ksx py jgk gS] bl izfØ;k esa] jksxh dh

dksf'kdkvksa e asfØ;k'khy thuk asdk s 'kjhj l s ckgj ycs kjs Vs jh e asj[kk tkrk g S vkjS bld s ckn mUg asjkxs h d s jDr cuku s oky s mQrdk as e as LFkkfir dj fn;k tkrk g]S ftll s o s lkekU; ghekXsykfscu d s lkFk ubZ jDr dkfs'kdkvk asdk fuek.Z k dju se asl{ke gk stkr sgAaS jkxs h bl 'kk/s &dk;]Z ftle asnkrk ij fuHkjZ jgu sdh ctk; jkxs h dh viuh dkfs'kdkvk as dk gh bLres ky fd;k tkrk g]S dh liQyrk dh vkjs cMh+ vk'kk Hkjh utjk asl sn[s k jg sgAaS bl lca /a e]as bl ifzØ;k dh liQyrk ch ,e Vh dh rjg lhfer ugh agAS vk'kk g S fd foKku tYn gh db Z rduhdh dfBukb;Z k as ij fot; ik yxs k vkjS lcdk s bl chekjh l sfutkr fnyku sdk liuk okLrfodrk e ascny tk,xkA

b&FkSyklhfe;k ds lkFk iSnk gq, cPps esa dksbZ Li"V y{k.k ugha fn[kkbZ nsrs gSaA ;gk¡ rd fd yscksjssVjh tk¡p ls Hkh bldk irk ugha py ikrk gS [kkldj rc] tc ekrk&firk dh tk¡p ugha dh xbZ gks] esa dksbZ vU; izHkkfor cPpk u gksA cgqr 'kq:vkrh mez esa b&FkSyklhfe;k estj dh igpku djuk

fLFkfr vPNh gks vkSj cpiu ls gh og fu;fer :i ls mipkj ys jgk

thu Fksjih (gene therapy)

dksbZ tUe&iwoZ tk¡p u dh xbZ gks] vkSj ifjokj

b&FkSyklhfe;k estj gksus dk irk dSls pyrk gS\

23b&FkSyklhfe;k

b24

dos y tus fsVd tkp¡ k as }kjk gh lHa ko gAS bu tkp¡ k as e as ekrk&firk e as l s iRz;ds l scPp sdk svuoq kfa'kd :i l sfeyh ghekXykfscu thuk asdh igpku dh tkrh gAS

cnfdLerh ls] tgk¡ bl chekjh dk irk yxkus ds fy, uotkr LØhfuax dk;ZØe vk;ksftr fd, tkrs gSa] ogk¡ Hkh gksus okyh fu;fer (routine) tk¡pksa ls bruh de mez esa b&FkSyklhfe;k dh igpku ugha gks ikrh gSA

fiQj Hkh] bl voLFkk esa LØhfuax djuk gheksXyksfcu laca/h [kjkfc;ksa ds vU; :iksa] tSlsa gheksXyksfcu&bZ ;k gheksXyksfcu&,l dh ekStwnxh dk irk

yxkus esa mi;ksxh lkfcr gks ldrk gSA T;knkrj ekeyksa esa] b&FkSyklhfe;k dh igpku igys dqN eghuksa vkSj nks o"kZ ls igys dh tk ldrh gSA

gkykafd b&FkSyklhfe;k baVjehfM;k] tks vDlj b&FkSyklhfe;k estj ls de xaHkhj gksrh gS] dk irk dkiQh yacs le; rd ugha yxk;k tk ldrk gSA

yky jDr dksf'kdk dkmaVj (red blood cell counter)] tks ,d bysDVªkfud midj.k gS] yky jDr dksf'kdkvksa d s vkdkj vkjS okWY;we (volume) rFkk mue as ektS nw ghekXsykfscu dh ek=kk dk s ekirk gAS vxj yky jDr dkfs'kdkvk as dk vkdkj ,o a okWY;we vkjS mue as ektS nw ghekXsykfscu dh ek=kk dkiQh de (ghekXsykfscu dk Lrj 2&6 g/dl. d s chp gk)s gkrs h g]S rk s FkyS klhfe;k l s ihfMr+ gkus s dk irk py tkrk gAS FkyS klhfe;k d sjkfsx;k ase asvkerkjS ij ikb Ztku sckyh dNq jDr foKku lca /a h rkfydk, ¡ (haematological indices) uhp snh xb Zg S%&

gheksXyksfcu (Hb) g/dl 6.8 (jast 3.9 - 9.3)

vkSlr (mean) :f/jk.kq (corpuscular) gheksXyksfcu (MCH) pg 20.9 (jast 15-26)

vkSlr dksf'kdk okWY;we (MCV) FL 65.8 (jast 57-75)

vkSlr :f/jk.k qghekXsykfscu ek=kk &MCHC- g/dl. 30.9 (jtsa 26-34)

ekbØksLdksi ls ns[kus ij yky jDr dksf'kdk,a lkekU; ls T;knk ihyh (hypochromic) vkjS NkVs h (microcytic) ekyew iMr+ h g]aS vkjS [kkldj fd mue asl sT;knkrj d svkdkj ,o aLo:i&,fulklss kbVkfsll vkjS ikbs dkbykls kbVkfsll& vlkekU; gkrs sg]aS tk sloa kgd e asn[s k stku soky sifjoruZ k asl sT;knk Li"V gkrs sgAaS

;g ,d ,slh izfd;k gS] tks gheksXyksfcu v.kq ] ;kfu gheksXyksfcu&, (HbA)] gheksXyksfcu&,2 (HbA2) vkSj gheksXyksfcu&,iQ (HbF) cukus okys fofHkUu izksVhuksa dks vyx djrh gSA vxj

yscksjsVjh esa estj dk irk yxkus ds fy, vkerkSj ij bLrseky fd, tkus okys rjhdss

(i) jDr&foKku laca/h rkfydk,¡ ekiuk&

(ii) jDr fiQYe (blood film) vkSj yky jDr dksf'kdk vkÑfr foKku

(iii) bZysDVªksiQksjsfll }kjk gheksXyksfcu dk fo'ys"k.k&

b&FkSyklhfe;k

&

b&FkSyklhfe;k dh igpku igys

dqN eghuksa vkSj nks o"kZ ls igys dh tk

ldrh gSA

&FkSyklhfe;k

gheksXyksfcu&,iQ ldrk gS] rks FkSyklhfe;k ds Mk;Xuksfll dh lykg nh tkrh gSA gheksXyksfcu&, 2] tks vDlj lkekU; o;Ld gheksXyksfcu ds 3 izfr'kr rd gksrk gS] dh ek=kk 'kwU;] de] lkekU; ;k FkksM+h c<+h gqbZ gks ldrh gSA

igpku dh iqf"V (confirmation) ;k fdlh igpku ds nkSjku vkSj vf/d [kkl tkudkjh gkfly djus ds fy, ;s dqN [kkl rjhds gS] ftuesa jksxdkjd thu laca/h cnyko (mutation) dh igpku djus ds fy, Mh,u, tk¡p dk bLrseky djrs gq,] igpku dh iqf"V ds vykok] chekjh dh xaHkhjrk ds ckjs esa Hkh tkudkjh fey ldrh gSA

gkykafd b&FkSyklhfe;k estj dh igpku vDlj Bhd gksrh gS] ysfdu fodkl'khy ns'kksa esa] tgk¡ eysfj;k tSlh chekfj;ksa dh vf/drk igpku dks dfBu cuk ldrh gSa] igpku djus esa eqf'dy gks ldrh gSA

elyu] eysfj;k ds dkj.k ,usfe;k vkSj LIyhuksexsyh (splenomegaly) gks ldrh gSa] vkSj gkykafd jDr&lacaa/h iz;ksx'kkyk ds urhts fcYdqy vyx dks ldrs gSa] blfy, jksxh dh gkyr vkSj igpku dk nksckjk ewY;kadu djus ls igys jksxh dk mipkj eysfj;k&jks/h nokb;ksa ls djuk iM+ ldrk gSA

vU; fLFkfr;k¡ Hkh ,usfe;k vkSj LIyhuksexsyh vkSj c<+s gq, gheksXyksfcu&,iQ Lrj dk dkj.k gks ldrh gSa vkSj vfrfjDr funku vkSj yscksjsVjh tk¡pksa ds lkFk ,d varj lacU/h (differential) igpku t:jh gks tkrk gSA mipkj 'kq: djus ls igys FkSyklhfe;k dh lVhd igpku dj ysuk cgqr egRoiw.kZ gSA

gk¡] dbZ o;Ld jksxh vc 'kknh'kqnk gSa vkSj ekrk&firk cu pqds gSaA muds thuksa dk tUe ds lkFk cPpksa esa tkus dh fuEufyf[kr laHkkouk,¡ gSa %&

vxj ekrk&firk esa ls ,d b&FkSyklhfe;k estj@baVjehfM;k ls ihfM+r gS vkSj nwljs dh b&Xyksfcu thusa (HbA) iwjh rjg fØ;k'khy gSa] rks muds lHkh cPp sb&FkyS klhfe;k d sLoLFk loa kgd gkxas As

vxj ekrk&firk esa ls ,d b&FkSyklhfe;k dk laokgd gS vkSj nwljk b&FkSyklhfe;k estj dk jksxh gS] rks nks esa ,d ;kfu 50 » cPpsa

b&FkSyklhfe;k ds laokgd gksaxs vkSj nks esa ,d ;kfu 50 » cPps b&FkSyklhfe;k estj ds jksxh gksaxsA

vxj ekrk&firk nksukas b&FkSyklhfe;k estj ds jksxh gSa] rks lHkh cPps Hkh b&FkSyklhfe;k estj ds jksxh gksaxsA

dk Lrj lkekU; ls vf/d gksrk gS] tks 20&90 izfr'kr ds chp gks

(iv) ekWfyD;wyj (molecular) rjhdksa }kjk%

(i)

(vkdfr&5)

(ii)

(vkdfr&6)

(iii)(vkdfr&7)

D;k FkSyklhfe;k estj ds jksxh cPps iSnk dj ldrs gS\

25b&FkSyklhfe;k

vkd`fr 5

b26

lkekU;b&FkSyklhfe;k

laHkkouk,a%

ekrk&firk esa ls ,d b&FkSyklhfe;k jksxh vkSj nwljk iq.kZ :i lsa LoLFk

lHkh LoLFkb&FkSyklhfe;k

laokgd

&FkSyklhfe;k

vkd`fr 6

lkekU;b&FkSyklhfe;k

,d b&FkSyklhfe;k jksxh vkSj nwljk b&FkSyklhfe;k

dk laokgd

laHkkouk,a%

50 izfr'krb&FkSyklhfe;kxaHkhj jksxh

50 izfr'krb&FkSyklhfe;k

laokgd

27b&FkSyklhfe;k

vkd`fr 7

b&FkSyklhfe;k

ekrk&firk nksuksa b&FkSyklhfe;k

jksxh

100 izfr'krb&FkSyklhfe;kxaHkhj jksxh

laHkkouk,a%

&FkSyklhfe;kb28

'kq: esa FkSyklhfe;k dks Hkw&eè;lkxjh; bykds rd lhfer chekjh le>k tkrk FkkA blfy, bldk uke iM+k esfMVsjsfu;u ,usfe;k vkSj FkSyklhfe;k] tks FkSyklk (lkxj) vkSj ,usfe;k ([kwu dh deh) ls fudyk ,d fefJr xzhd (Greek) 'kCn gS] ysfdu vc irk pyk gS fd gheksXyksfcu&lacaèkh chekfj;ksa ls nqfu;k ds dbZ fgLlksa ds yksx ihfM+r gSaA ;g chekjh nf{k.k ;wjksi esa iqrZxky ls ysdj Lisu] bVyh vkSj xzhl] dbZ iwohZ ;wjksi ds ns'kksa] iwjs eè;&iwoZ ls bZjku] ikfdLrku] Hkkjr] ckaXykns'k] FkkbZySaM] eysf'k;k] baMksusf'k;k vkSj nf{k.kh phu rd rFkk vÚhdk ds mÙkjh rV ds ns'kksa vkSj nf{k.k vesfjdk rd iQSyh gqbZ gSA FkSyklhfe;k [kkldj mu {ks=kksa esa T;knk gS] tgk¡ eysfj;k ,d fo'ks"k {ks=kh; chekjh gS ;k dHkh FkhA

,slk ekuk tkrk gS fd nqfu;k ds bu {ks=kksa esa ekuo ds thuksa esa FkksM+k cnyko vk x;k & ,d

esa mRifjorZu (mutation)A bl cnyko ds dkj.k yky jDr dksf'kdkvksa ds okrkoj.k esa egRoiw.kZ ifjorZu gq,] ftlus eysfj;k ds ijthfo;ksa (parasites) dks c<+us vkSj iuius ls jksd fn;k vkSj bl izdkj bu yksxksa dks muds eqdkcys] ftuesa thu&laca/h ;g ifjorZu ugha gqvk] ftank jgus dk iQk;nk (suvival advantage) fey x;kA blfy, ,slk ekuk tkrk

gS fd FkSyklhfe;k (a vkSj b) ds laokgdksa vkSj fldy lsy tSlh gheksXyksfcu ls tqM+h vU; [kjkfc;ksa ds laokgdksa esa eysfj;k ls viuk cpko djus dh {kerk LoLFk O;fDr;ksa ls T;knk FkhA blfy, nqfu;k ds eysfj;k ls fo'ks"k :i ls izHkkfor {ks=kksa esa LoLFk O;fDr;ksa dh cM+h la[;k esa ekSr gksus ds dkj.k laokgdksa dh la[;k esa dqN lkyksa esa dkiQh c<+ksrjh gqbZA

yksxksa ds ,d ns'k ls nwljs ns'k tkus vkSj vyx&vyx tkfr;ksa ds chp fookg ds dkj.k

FkSyklhfe;k mÙkjh ;wjksi vkSj vU; ns'kksa] tgk¡ igys FkSyklhfe;k ugha Fkh] lfgr nqfu;k ds yxHkx lHkh ns'kksa esa iQSy pqdh gSA

thu&laca/h lek;kstu ;k tho&foKku ds 'kCnksa

b&FkSyklhfe;k vkSj vU; gheksXyksfcu&laca/kh chekfj;k¡ fdu txgksa ij ikbZ tkrh gSa\

29

fu;a=k.k dk;ZØe LFkkfir gksus ls

igys eysfj;k ls izHkkfor ns'k

eysfj;k

gheksXyksfcu&lacaèkh chekfj;ksa dk

fo'oO;kih uD'kk

"Guidlines to the clinicalManagement of Thalassaemia"2000

b&FkSyklhfe;k

b30

gky dh egkekjh&laca/h tkudkfj;ksa ds eqrkfcd fo'o&tula[;k dk yxHkx 7 izfr'kr tula[;k izHkkfor gheksXyksfcu thu dk laokgd gSa vkSj izfro"kZ 3]00]000 ls 5]00]000 izHkkfor cPps tUe ys jgs gSaA buesa ls 80 izfr'kr ls T;knk nqfu;k ds fodkl'khy {ks=kksa esa tUe ysrs vkSj jgrs gSaA buesa 70 izfr'kr esa fldy [kjkch gS] tcfd ckdh FkSyklhfe;k lay{k.k (syndomes) ls ihfM+r gSaaA (misdiagnosed) ds dkj.k mfpr bZykt ds vHkko esa ;k cxSj bykt ds jg tkus dh otg ls vkt Hkh fodkl'khy ns'kksa esa bl chekjh ls izHkkfor cPpksa dh cM+h rknkn esa eR;q gks jgh gSA ("World Bank 2006, report of a joint WHO - March of Dimes meeting 2006)

le; jgrs chekjh dk irk ugha yxus ;k xyr igpku

izHkkfor cPpksa ds tUe esa deh ykus vkSj nqfu;k Hkj ds gheksXyksfcu&laca/kh jksfx;ksa ds thou dh j{kk vkSj xq.koÙkk (quality) esa lq/kkj ykus ds fy, jk"Vªh; fua;=.k dk;ZØeksa dh rRdky t:jr gSA

&FkSyklhfe;k

FkSyklhfe;k varjkZ"Vªh; QsMjs'ku

ds izdk'ku

1. "Blood Safety Kit" (1999)

2. "Guidelines to the clinical Management of Thalassaemia" 2000

3. "Compliance to Iron Chelation therapy with Desferrioxamine" 2000 - reprinted 2005

4. "About Thalassaemia" -2003

5. "Prevention of Thalassaemias and other Haemoglobinopathies"Volume I (2003)

6. "Prevention of Thalassaemias and other Haemoglobinopathies"Volume II (2005)

7. "Patients' Rights" 2007

8. "A guide to the establishment and promotion of non-government patients/parents' organization" 2007

9. Update version of the book "Guidelines to the Clinical Management of thalassaemia" May 2007

10. Children's dialogue : "Thalassaemia and Me" 2007

11. Booklet One: About b -thalassaemia 2007

12. Booklet Two: About a -thalassaemia 2007

13. Booklet Three: "About Sickle Cell Disease" 2007

14. TIF's Educational Folder 2007

[ In English]

[ Translated into 6 languages ]

[ Translated into 4 languages ]

[ Translated into 11 languages ]

[ Translated into 2 languages ]

[ Translated into English ]

[ In English ]

[ In English ]

[ In English ]

[ In English ]

31b&FkSyklhfe;k

b32

VhvkbZ,Qls lEidZdSls djsa

Thalassaemia International Faderation

P.O. Box 28807, 2083 Nicosia, Cyprus

Tel.: 00357

Fax: 00357

E-mail:

Web-site:

22319129/ 22319134

22314552

thalassaemia@cytanet.com.cy

www.thalassaemia.org.cy

Published by the:

Thalassaemia

International Faderation

No. 11

ISBN: 978-9963-623-46-4

&FkSyklhfe;k

izdk'kd%

FkSyklhfe;k varjkZ"Vªh; QsMjs'ku la[;k% 11vkbZ,lch,u% 978&9963&623&46&4