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|Title||Occurrence of "G6PD" Enzyme Deficiency among Children Suffering from Hemolytic Anemia in Gaza - Palestine|
Background: The Glucose-6-phosphate dehydrogenase (G6PD) deficiency has been considered as the commonest enzymopathic inherited disorder of red blood cells, which affecting more than 500 million people worldwide. The G6PD gene in human is X-linked so males are more affected than females. The mutation in the G6PD gene may lead to the production of a G6PD enzyme that has diminished functionality and/or stability, leading to wide range of biochemical and clinical presentations principally neonatal jaundice and acute hemolytic anemia triggered by an exogenous agent in most cases. More than 176 mutations, and 500 different variants have been described to date for the G6PD gene, however, the Mediterranean mutation c.563 C>T, whether associated with c.1311 C>T polymorphism or not, is among most common variants that lead to enzyme deficiency and often associated with Favism. Objectives: The main objective of this study is to determine the frequency of the Mediterranean mutation (c.563 C>T) and its association with c.1311 C>T polymorphism among Palestinian G6PD deficient children admitted to Al Nasser pediatric hospital at Gaza due to hemolytic crises. Methodology: In this cross- sectional descriptive study, 80 children (2-8 years old) presenting with hemolytic anemia were included and they represent the period from April 2010 and March 2011. Venous blood samples (2.5 ml) were withdrawn at hospital admission from each hemolytic child and were collected in K3-EDTA tubes and were used for performing complete blood count (CBC), G6PD enzyme assay, DNA extraction and, mutation analysis. Forty school-aged children without G6PD deficiency were selected as the non-G6PD deficient control group for the hematological studies. Additionally, 40 X-chromosomes from apparently healthy, male subjects served as controls tested for the c.1311 C>T polymorphism. Results: The results showed that 65 (60 males & 5 females) out of the 80 children were found to be G6PD deficient. In most G6PD deficient cases (67.7%) hemolytic crisis occurred in early childhood (≤ 40 months), and it was totally (100 %) due to ingestion of fava beans, either green (96.9 %) or dried (3.1 %). Most (98.5%) of G6PD deficient cases went through neonatal jaundice after birth, which last 1-2 weeks. The Mediterranean c.563 C>T and the c.1311 C>T polymorphism were encountered, respectively, in 35.4 % (allele frequency 0.33) and 41.8 % (allele frequency 0.42) of G6PD deficient children. Also the c.1311 C>T polymorphism was identified in 17.5 %. (allele frequency 0.18) of control blood samples. However, the incidence of c.1311 C>T polymorphism with patients carrying the Mediterranean c.563 C>T mutation was 95.2 percent (allele frequency 0.96) compared to 11.4 percent (allele frequency 0.08) in G6PD deficient individuals without the Mediterranean c.563 C>T mutation. The comparisons of G6PD enzyme activity and erythrogram revealed that the G6PD deficient subjects were admitted to the hospital with significantly lower hematological parameters except for MCHC. In addition, no significant hematological or enzymatic activity differences were reported between the G6PD deficient children carrying the Mediterranean c.563 C>T mutation and those G6PD deficient children carrying non-Mediterranean mutation. Conclusions: It is concluded that the Mediterranean mutation c.563 C>T is common among G6PD deficient Gaza Strip Palestinians and is highly associated with the c.1311 C>T polymorphism. This work could be foundational for further investigations of G6PD molecular studies with emphasis on ancestral origin of these variants. The present study also emphasizes the predominant existence of the G6PD deficiency among Palestinian population, which justifies the necessity of the Palestinian Health policy leaders establishing nationwide programs of newborn screening for G6PD deficiency.
|Publisher||الجامعة الإسلامية - غزة|
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