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12th Congress of the European Hematology ... - Haematologica

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1492<br />

FREQUENCY OF MEDITERRANEAN GLUCOSE-6-PHOSPHATE DEHYDROGENASE<br />

MUTATION IN SAUDI ARABIA-JEDDAH<br />

M. Gari, A. Chaudhary, A. Abuzenadah, M. Al-Qahtni, F. Al-Says,<br />

A. Al-Harbi, G. Damanouri, G. Damanhouri, S. Lari<br />

King Abdulaziz University, JEDDAH, Saudi Arabia<br />

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a widespread<br />

abnormality <strong>of</strong> red cell enzyme, which gives rise to hemolysis<br />

under oxidative stress. In Saudi Arabia, however, G6PD deficiency has<br />

a variable frequency in different regions. The prevalence and genotypes<br />

<strong>of</strong> G6PD deficiency are not known until now in Jeddah province.<br />

Accordingly, we design this study to investigate <strong>the</strong> frequency <strong>of</strong> <strong>the</strong><br />

Mediterranean mutation that involves exon 6 and exon 7 <strong>of</strong> <strong>the</strong> G6PD<br />

gene. 47 samples were collected in a short period from July 2005 to<br />

October 2005. Twenty five Saudi males and 22 Saudi females, (<strong>the</strong>ir<br />

ages ranged between 18 and 45) were screened for G6PD deficiency by<br />

quantitative spectrophotometric assay at <strong>the</strong> Maternity and Children<br />

Hospital in Jeddah for premarital screening were found to be deficient<br />

in G6PD. The DNA <strong>of</strong> <strong>the</strong> G6PD deficient subjects was extracted from<br />

whole blood and <strong>the</strong>n amplified by <strong>the</strong> polymerase chain reaction<br />

(PCR). Mutation analysis was performed by using conformation sensitive<br />

gel electrophoresis (CSGE), altered CSGE patterns were <strong>the</strong>n<br />

sequenced by automated sequencer. All mutations were detected in<br />

exon 6 <strong>of</strong> <strong>the</strong> G6PD gene, while no mutations were detected in exon 7.<br />

In conclusion, Mutations were detected in 7/47 G6PD deficient (6<br />

Mediterranean mutation and one Siberian mutation not been reported<br />

in Saudi Arabia). The frequency <strong>of</strong> Mediterranean mutation in G6PD<br />

patients in Saudi Arabia-Jeddah was 10.3%. This can be used as screening<br />

method for early detection <strong>of</strong> G6PD deficiency before marriage. In<br />

addition, o<strong>the</strong>r G6PD mutations remain to be determined.<br />

1493<br />

THE EFFICIENCY OF ERYTHROPOIETIN ADMINISTERED AT THE ANEMIC PATIENTS WITH<br />

MALIGNANT HEMOPATHIES AND SOLID TUMORS, TREATED WITH CHEMOTHERAPY<br />

R. Mihaila, 1 R. Mihaila, 2 E.C. Rezi, 3 L. Tiurean, 3 M. Deac, 2 A. Catana, 3<br />

M. Patran, 3 L. Draghila, 3 A. Olteanu, 3 L. Mocanu, 3 A. Zaharie, 3<br />

I. Zaharie3 1 Public Health Authority, SIBIU, Romania; 2 Lucian Blaga University, SIBIU,<br />

Romania; 3 Departmental Clinical Hospital, SIBIU, Romania<br />

Background. The treatment <strong>of</strong> <strong>the</strong> anemia at <strong>the</strong> patients with malignancies<br />

combats <strong>the</strong> hypoxia, improves <strong>the</strong> answer to <strong>the</strong> treatment and<br />

ameliorates <strong>the</strong> quality <strong>of</strong> life. Aim. We proposed ourselves to study <strong>the</strong><br />

efficiency <strong>of</strong> <strong>the</strong> Erythropoietin administration at <strong>the</strong> anemic patients<br />

with malignant hemopathies and solid tumors, treated with chemo<strong>the</strong>rapy.<br />

Method. We have studied all <strong>the</strong> 57 patients which were in <strong>the</strong> evidence<br />

<strong>of</strong> <strong>the</strong> County Clinical Hospital from Sibiu with malignant<br />

hemopathies and solid tumors, treated with chemo<strong>the</strong>rapy, to which<br />

we have associated Erythropoietin during 15.09.2006-31.12.2006. For all<br />

<strong>the</strong> patients <strong>the</strong> informed consent was obtained. We have analyzed <strong>the</strong><br />

next parameters: age, gender, <strong>the</strong> doze <strong>of</strong> Erythropoietin, <strong>the</strong> treatment’s<br />

duration and <strong>the</strong> monthly changes <strong>of</strong> <strong>the</strong> hemogram (hemoglobin,<br />

hematocrit, leucocytes and platelets). There was analyzed <strong>the</strong><br />

answer at <strong>the</strong> treatment with Erythropoietin at <strong>the</strong> patients with malignant<br />

hemopathies compared with those with solid tumors. The variation<br />

<strong>of</strong> <strong>the</strong> hematological parameters was statistically analyzed using<br />

<strong>the</strong> t Student test. Results. The medium age <strong>of</strong> <strong>the</strong> group was<br />

60.68±11.64 years. The gender repartition was: 38 women and 19 men.<br />

Only 37 patients could have been evaluated after at least one month <strong>of</strong><br />

treatment. The average <strong>of</strong> <strong>the</strong> Erythropoietin dose <strong>the</strong>y have used was<br />

30000 UI weekly. The medium duration <strong>of</strong> <strong>the</strong> treatment was 7.54<br />

weeks. After a month <strong>of</strong> treatment <strong>the</strong> average increasing <strong>of</strong> <strong>the</strong> hemoglobin<br />

level was 1.43 g/dL (p

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