CLINICAL PRESENTATION OF GLUCOSE-6- PHOSPHATE DEHYDROGENA SE (G6PD) DEFICIENCY: A PILOT STUDY

Sixty-six children with G6PD deficiency were evaluated retrospectively to ascertain the clinical features, etiology, ultimate outcome and population at risk, The occurrence of jaundice in 18 neonates (group J) was, contrary to other countries, in the form of neonatal jaundice type II. Sepsis, prematurity, hypoxia and acidosis were associating factors. 77.8% of neonates had exchange blood transfusions and 22% had kernicterus. The occurrence of acute hemolytic anemia in 48 children (group II) was seen at 3.4±1.6 years of age and the factor initiating hemolysis in the majority of cases was fava bean ingestion. 79% of group 0 had at least one blood transfusion for severe anemia. Chronic anemia in 6.2% suggested congenital nonspherocytic hemolytic anemia. Most patients had blood group 0, thus showing a higher prevalence than the general population. Among children, the birth places in 22 cases were in the north (77.2%), the west (18.1 %), and other pans (9.7%) of lran. 30.4% of children had other family members with G6PD deficiency. According to WHO and considering the prevalence of the disease in our country, lab screening tests are strongly recommended in the following situations: neonates with jaundice, males having blood group O. a family history of the disease and children from the north and west of Iran.