Chronic haemolytic anaemia and glucose-6 phosphate dehydrogenase deficiency. Case report and review of the literature.
Deficiency in glucose-6-phosphate dehydrogenase (G6PD) is the most common enzymopathy, and more than 125 different mutations causing G6PD deficiency have been identified. Chronic haemolytic anaemia (CHA) associated with G6PD deficiency is rare, but there is a cluster of mutations causing CHA between amino acids 361-428 which are encoded by exon 10 of the G6PD gene. This region is involved in the dimer formation of the active G6PD enzyme and therefore plays an important role for enzyme stability and activity. Here, we report a 17-year-old patient with CHA, who carries a rare G --> A mutation at nucleotide 1160 which causes an R387H amino acid substitution. We review the reports of the seven previously described patients with this mutation, concluding that G6PD deficiency should be considered as a rare differential diagnosis of chronic haemolytic, non-spherocytic anaemia.
Department of General Paediatrics, Charité, Humboldt University, Berlin, Germany. phundsdoerfer@hotmail.com
P
P
Hundsdoerfer
B
B
Vetter
A E
AE
Kulozik
D000293:Adolescent; D019943:Amino Acid Substitution; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology / Q000235:genetics*; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D017354:Point Mutation
D005954:Glucosephosphate Dehydrogenase