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 heterozygosity for hemoglobin (Hb) Malay and codon 41/42 (-CTTT) beta(0)-thalassemia mutation in a 38-year-old Chinese woman. This patient has long-standing anemia 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 overload. 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 who are reported to have Hb A on the basis of Hb analysis. The possible presence of this mutation should also be considered in appropriate cases for genetic counseling in couples at risk of conceiving fetuses with beta-thalassemia major or intermedia.
Ma
S K
SK
Department of Pathology, The University of Hong Kong, Queen Mary Hospital, China. eskma@hkucc.hku.hk
Chow
E Y
EY
Chan
A Y
AY
Kung
N N
NN
Waye
J S
JS
Chan
L C
LC
Chui
D H
DH
D000328:Adult; D044466:Asian People; D005192:Family Health; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D017354:Point Mutation; D013789:Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; C063216:hemoglobin Malay; D005914:Globins