| Popis: |
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting more than 500 million people worldwide, is one of the most common inherited red blood cell disorders. There are 186 G6PD mutations published, with some that cluster within defined ethnic/racial groups. These prevalent variants are generally considered to be benign in adults, but their morbidity, presenting as acute hemolytic anemia in young children, can be significant. However, comprehensive molecular characterization of ethnically prevalent G6PD mutants and their relative clinical significance is lacking. In the Gaza Strip, where the G6PD deficiency frequency in the population is significant (> 3%) and fava beans, green and dried, are a dietary staple, the risk of acute hemolytic crisis is significant. We studied 80 unrelated Gaza Strip Palestinian children (ages 34–52 months, mean= 39.5) hospitalized for acute hemolytic anemia. We found a dramatically increased risk of hospitalization for acute hemolytic anemia among Palestinian children due to G6PD deficiency. The risk varied in accordance with the G6PD variant associated with the disorder. This is the first study comparing the relative clinical impact of three prevalent G6PD deficient variants in the same population and habitat to identify clinically significant effects due to the different genetic mutations. • G6PD deficiency accounts for the majority of Palestinian children hospitalized for hemolytic anemia• G6PD MED, A-and Cairo present a high risk of hospitalization to children• G6PD MED, A-and Cairo are predominant G6PD variants in Gaza Strip, Palestine• Clinical presentation of G6PD Cairo is disproportionate to its … |
