Hemolysis and Mediterranean G6PD mutation (c.563 C>T) and c.1311 C>T polymorphism among Palestinians at Gaza Strip

• Published in: Blood cells, molecules, & diseases Vol. 48; no. 4; pp. 203 - 208
• Main Authors: Sirdah, Mahmoud, Reading, N. Scott, Perkins, Sherrie L., Shubair, Mohammad, Aboud, Lina, Prchal, Josef T.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 15.04.2012
• Subjects: Anemia, Hemolytic - genetics; Arabs - genetics; c.1311T G6PD polymorphism; Child, Preschool; Female; G6PD variants; Gaza Strip Palestinians genetics; Gene Frequency; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase - metabolism; Glucosephosphate Dehydrogenase Deficiency - ethnology; Glucosephosphate Dehydrogenase Deficiency - genetics; Hemolysis and G6PD deficiency; Humans; Male; Mediterranean G6PD mutation c.563T; Middle East - epidemiology; Mutation; Polymorphism, Single Nucleotide; Prevalence; Middle East; Mediterranean G6PD mutation c.563T; c.1311T G6PD polymorphism; Hemolysis and G6PD deficiency; Gaza Strip Palestinians genetics; G6PD variants
• DOI: 10.1016/j.bcmd.2012.01.007
• ISSN: 1079-9796

The G6PD c.563 C>T deficient mutation is endemic among Mediterranean populations but its clinical significance is not well delineated. We set up to estimate the proportion of G6PD deficient children presenting with hemolytic anemia at Al Nasser Pediatric Hospital at Gaza Strip, Palestine. We then established the prevalence of c.563T Mediterranean mutation and its linkage to c.1311 C>T polymorphism in this population. G6PD deficiency was identified in children presenting with hemolytic anemia at Al Nasser Pediatric Hospital by spectrophotometric measurement of G6PD activity. G6PD exon 6 and exon 11 were amplified from genomic DNA and evaluated for c.563T mutation by sequencing and the c.1311T polymorphism by restriction fragment analysis. Seventy X-chromosomes (60 males and 5 females) from G6PD deficient patients and 40 X-chromosomes from a control group known to be not G6PD deficient were tested. Over 80% of these children presenting with hemolytic anemia were G6PD deficient and 34% of these had the Mediterranean G6PD deficient variant. The allelic frequencies of Mediterranean c.563T and c.1311T polymorphisms among G6PD deficient patients were 0.33 and 0.38 respectively. The c.1311T polymorphism was linked in 95.2% of patients with the Mediterranean mutation, an allele frequency of 0.87, compared to the control non-G6PD deficient group with an allele frequency of 0.18. We conclude that G6PD deficiency accounts for majority of hemolytic anemia encountered in Gaza children treated at Al Nasser Pediatric Hospital Emergency department. The Mediterranean mutation c.563T, while not accounting for a majority of G6PD deficiency, is common among G6PD deficient Gaza Strip Palestinians and is frequently, but not always, linked to the c.1311T polymorphism. This work provides a foundation for the population screening of Palestinians for G6PD deficiency and for investigations of ancestral origin of the Mediterranean variant in world populations.