Sindromi falcemiche:

peculiarità dei vari genotipi.

Studio SITE

Risultati preliminari

DOTT.SSA ALESSANDRA QUOTA

U.O.S. TALASSEMIA

ASP CL DISTRETTO OSPEDALIERO CL2

OSPEDALE "VITTORIO EMANUELE"

GELA

La sottoscritta QUOTA ALESSANDRA

ai sensi dell’art. 3.3 sul Conflitto di Interessi, pag. 17 del Reg. Applicativo

dell’Accordo Stato - Regione del 5 novembre 2009

dichiara

di non aver avuto rapporti di finanziamento con soggetti portatori di

interessi commerciali in campo sanitario

• Total number of patients: 697

• Genotype: ß+/ßS, ß°/ßS, ßS/ßS

• Median fu: 36 years (IQR: 21-48 years)

• Preliminary results

• Data from 6 centers

169; 24%

241; 35%

287; 41%

ß+/ßS ß°/ßS ßS/ßS

Milano - Policlinico

Orbassano (TO)

Genova - Galliera

Palermo – V.Cervello

Gela (CL)

Ragusa

Distribution in the centers

0

40

80

120

160

200

PALERMO GELA RAGUSA ORBASSANO MILANO GENOVA

ß⁺/ßS ß⁰/ßS ßS/ßS

African Caucasian American Asian Not defined

ß+/ßS 14 141 1 0 13

ß°/ßS 4 228 1 2 6

ßS/ßS 160 101 15 0 11

Ethnicity

Age (years) ß+/ßS ß°/ßS ßS/ßS

Median 40 41 26

IQR1 31 28 10

IQR3 53 51 42

Total Female Male

ß+/ßS 169 87 82

ß°/ßS 241 114 127

ßS/ßS 287 144 143

The population of patients ßS/ßS is

younger than ß°/ßS and ß+/ßS (p < 0.001)

No difference in age between ß°/ßS and

ß⁺/ßS (p=0.7)

Gender distribution

ß+/ßS23%

ß0/ßS34%

ßS/ßS43%

ß+/ßS39%

ß0/ßS36%

ßS/ßS25%

ALIVE 641 pzß+/ßS 147ß°/ßS 221ßS/ßS 273

DECEASED 56 pzß+/ßS 22ß°/ßS 20ßS/ßS 14

0

1

2

3

4

5

6

7

8

9

CAUSE OF DEATH

Trasfusional regimen

RTC

0

20

40

60

80

100

120

RTA

0

20

40

60

80

100

120

Total RTC NO RTC SI

ß+/ßS 153103

(67%)

50

(33%)

ß°/ßS 228123

(54%)

105

(46%)

ßS/ßS 273166

(61%)

107

(39%)

Chronic transfusional regimen

Total HU NO HU SI

ß+/ßS 15863

(40%)

95

(60%)

ß°/ßS 239106

(44%)

133

(56%)

ßS/ßS 278153

(55%)

125

(45%)

HU therapy

NO HU SI HU

RTC NO RTC SI RTC NO RTC SI

ß+/ßS 34 27 ß+/ßS 69 23

ß°/ßS 40 61 ß°/ßS 83 44

ßS/ßS 96 55 ßS/ßS 70 52

0

20

40

60

80

100

120

140

RTC HU RTC+HU NONE

Therapy

ß⁺/ßS ß°/ßS ßS/ßS

Age at first transfusion (Acute or Chronic)

Median (IQR) (years)

ß+/ßS 18 (4-30)

ß°/ßS 6 (3-18)

ßS/ßS 3 (1,5-7)

• Patients with ßS/ßS received the first

transfusion before ß°/ßS and ß+/ßS

(p<0.001)

• Patients with ß°/ßS received the first

transfusion before ß+/ßS (p<0.011)

Age at first transfusion (Only Chronic)

Median (IQR) (years)

ß+/ßS 6 (2,4-22)

ß°/ßS 4 (3-10)

ßS/ßS 2 (1-5)

• Patients with ßS/ßS received the first

transfusion before ß°/ßS and ß+/ßS

(p<0.001)

• No differences between patients with

ß°/ßS and ß+/ßS (p=0.26)

START of HU therapy

Median (IQR) (years)

ß+/ßS 32 (27-42)

ß°/ßS 35 (24-40)

ßS/ßS 19 (9-31)

• Patients with ßS/ßS received HU

therapy before ß°/ßS and ß+/ßS

(p<0.007)

• No differences between patients

with ß°/ßS and ß+/ßS (p=0.6)

No difference between

the survival curve of

patients in therapy with

or without HU

Median (IQR) (years)

NO HU 29.5 (9-43)

HU 40 (28-49)

Patients treated with HU are older then

the other group of patients (p<0.001)

No difference between the survival curve of patients

ß+/ßS, ß°/ßS, ßS/ßS

Grazie a tutti per

l’attenzione!!