Dr. Bushra Moiz

8/7/2019 Dr. Bushra Moiz

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diagnosis of-thalassemia minor in

diagnosis of-thalassemia minor in

Dr Bushra MoizConsultant Hematologist & Assistant Professor

us ra.mo z a u.e u


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HbA2, is globally the commonest chain.

Annals of hematology. 2002 Jul;81(7):386-8.

It was irst iscovere in 1958 in lac

community of Gulla James Island


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that results from modification of globin

arginine at codon 16Hemoglobin. 2003 May;27(2):105-10.

Normal= GCCCTGTGGGGCAAAGTGAAC

Normal= GCCCTGTGGGGCAAAGTGAAC

NCBI Reference Sequence: NM_000519.3

NCBI Reference Sequence: NM_000519.3


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HbA2 is in the detection of co-existing -

such individual might present with normal

thalassemia minor

HbA2+HbA2 >4.0% = beta thalassemia minor

Int J Lab Hematol. 2009 Jun;31(3):315-9.


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Al aline electrop oresis

Iso-electric focusing Micro-column chromatography

Clin Chem Acta. 2001 Nov;313(1-2):187-94.


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evaluate the prevalence of HbA2 and the-

Pakistani population.

The secondary objective was to determine

re erence ranges or iagnosis o t is variantby HPLC.


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Place of study: clinical lab, AKUH

Demographic data : IT ema o og ca parame ers: ou er

HPLC: Variant -thalassemia short program

o- a a ora or es, ercu es, , Statistical analysis: SPSS version 16


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S-window eaks RT=4.5

of 4.0%

.Beta thalassemia trait


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Results


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Various hemoglobinopathies seen

in 2006 (n=10186)

= .

.

HbA2'=27.4%

thal major=22.7%

.

HbA2'=27.4%

thal major=22.7%

HbS=2%

HbQ=1.1%

HbS=2%

HbQ=1.1%

HbD=1.0%HbD=1.0%


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= -

Gender=90 males/79 females/23U

ge mean range = . . -

Age


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= .

HbA2 1-2% = 63 (32.6%)

> = .


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Analysis of 192 samples with HbA2 and

identification of 64 missed cases of -thalassemia minor during 2006

Retention

HbA2

Total

Cases

n (%)

Time

Range(min)

Mean

HbA2*

Range (%)Mean

SD

Cases with

HbA2 >3.5%

n (%)

Cases with

HbA2+HbA2>4.0%

n (%)

Possibly

missed -thal

n (%)

2% 6 (3.1) 4.56 0.06

. - .

3.67 1.05 3 (50) 6 (100) 3 (50)

All192(100)

4.32-4.62 1.0-7.041 105 64

. . . .

* Difference in HbA2 levels in three groups is statistically not significant


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Simple heterozygous= 87 (45.3%)

HbA2 % 0.740.21 HbA2% 2.340.39

HbA2+HbA2% 3.080.37

= .

HbA2% 1.060.57

. . HbA2+HbA2% 5.152.40

omozygous=0


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=

Hb g/dl 8.462.87. .

MCH pg 19.77

5.05

ou e e erozygous=

Hb g/dl 8.463.05

MCV fl 66.4213.01 MCH pg 21.244.71


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Evaluable patients

N=140

Anemia

N=125; M=69Normal hemoglobin

N=15; M=7

Moderate SevereMild

N=12; M=6

M/F=4/0

N=56; M=24

M/F=25/38

N=64; M=39

M/F=43/25

HbA2>3.5% HbA2 >3.5% HbA2>3.5%

=

M I >13

N=4

= =

M I >13

N=13

M I >13

N=32

HbA213

N=2

HbA213

N=18


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. ,

which is lower than that reported in other

Annals of hematology. 2002 Jul;81(7):386-8.

A mean retention time o 4.59 0.05 or

HbA2 cases was observed in the study which

is a so supporte y ot ers

. - .


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-

peaks of less than 1%.

Male presented significantly earlier thanema es wit respect to age


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1.0- 2.9%for simple heterozygotes

American journal of clinical pathology. 2005 May;123(5):657-61.

In contrast, HbA2 level for double

heterozygotes was 2.0-7.0%


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heterozygotes for HbA2 and -thalassemia.


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the diagnosis of beta thalassemia in Pakistan

Molecular studies were not done CBC were not available for all cases

Iron rofile was not known


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Pakistani population but since a considerable

levels in simple and double heterozygotes, we

these hemoglobinopathies.


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required

HbA2 needs to be characterized atmolecular level or con irmation


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-

Tec nologists an pat ologists s oul e

aware of this

HbA2 should be added to HbA2 to

determine -thalassemia status


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Thank you

Documents

Dr. Bushra Moiz