beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay(beta codon 19 AAC -> AGC; Asn -> Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutation

We report a case of beta-thalassemia intermedia caused by compound heterozy gosity for hemoglobin (Hb) Malay and codon 41/42 (-CTTT) beta(0)-thalassemi a mutation in a 38-year-old Chinese woman. This patient has long-standing a nemia with a baseline Hb level of around 70 g/L. She worked as a full-time cashier and had not required regular blood transfusions. Nevertheless, she had splenomegaly necessitating splenectomy, cholelithiasis, and iron overlo ad. This case illustrates the varied phenotypic expression associated with compound heterozygosity for Hb Malay and other beta-thalassemia mutations. Since Hb Malay migrates as Hb A on electrophoresis and chromatography, this variant Hb mutation ought to be included in the differential diagnosis for beta-thalassemia major or intermedia patients of Southeast Asian descent w ho are reported to have Hb A on the basis of Hb analysis. The possible pres ence of this mutation should also be considered in appropriate cases for ge netic counseling in couples at risk of conceiving fetuses with beta-thalass emia major or intermedia. (C) 2000 Wiley-Liss. Inc.