Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism.
During a routine screening for G6PD deficiency in the Province of Matera (Southern Italy), an eleven-year-old boy was brought to our attention who had fever obviously caused by a viral infection, but who also had hepatosplenomegaly and haemoglobinuria. The boy had previously experienced two severe haemolytic attacks. At the age of six months severe haemolysis occurred after the ingestion of cooked fava beans. At the age of seven years, the haemolytic episode was very likely triggered by oral administration of co-trimoxazole. The G6PD activity level in erythrocyte lysate was clearly defective (25% of normal). The electrophoretic mobility of G6PD was 110% of normal. These data together with those obtained from biochemical and molecular characterisation allowed the variant to be identified as G6PD A(-). This is the first report of an association between the African type G6PD deficiency variant and favism.
Calabrò
V
V
Cascone
A
A
Malaspina
P
P
Battistuzzi
G
G
D000293:Adolescent; D004338:Drug Combinations / Q000009:adverse effects; D005236:Favism / Q000201:enzymology* / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000097:blood* / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000145:classification; D006461:Hemolysis; D006801:Humans; D007558:Italy; D008297:Male; D013420:Sulfamethoxazole / Q000009:adverse effects; D014295:Trimethoprim / Q000009:adverse effects; D015662:Trimethoprim, Sulfamethoxazole Drug Combination; D014777:Virus Diseases / Q000150:complications
D004338:Drug Combinations; D015662:Trimethoprim, Sulfamethoxazole Drug Combination; D014295:Trimethoprim; D005954:Glucosephosphate Dehydrogenase; D013420:Sulfamethoxazole