β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β0‐thalassemia mutation

American Journal of HematologyVolume 64, Issue 3 p. 206-209 Case ReportFree Access β-thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (-CTTT) β0-thalassemia mutation S.K. Ma, Corresponding Author S.K. Ma eskma@hkucc.hku.hk Hematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, ChinaHematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong, ChinaSearch for more papers by this authorEudora Y.D. Chow, Eudora Y.D. Chow Department of Pathology, United Christian Hospital, Hong Kong, ChinaSearch for more papers by this authorAmy Y.Y. Chan, Amy Y.Y. Chan Hematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorNelson N.S. Kung, Nelson N.S. Kung Department of Medicine, United Christian Hospital, Hong Kong, ChinaSearch for more papers by this authorJohn S. Waye, John S. Waye Provincial Hemoglobinopathy DNA Diagnostic Laboratory and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, Ontario, CanadaSearch for more papers by this authorL.C. Chan, L.C. Chan Hematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorDavid H.K. Chui, David H.K. Chui Provincial Hemoglobinopathy DNA Diagnostic Laboratory and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, Ontario, CanadaSearch for more papers by this author S.K. Ma, Corresponding Author S.K. Ma eskma@hkucc.hku.hk Hematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, ChinaHematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong, ChinaSearch for more papers by this authorEudora Y.D. Chow, Eudora Y.D. Chow Department of Pathology, United Christian Hospital, Hong Kong, ChinaSearch for more papers by this authorAmy Y.Y. Chan, Amy Y.Y. Chan Hematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorNelson N.S. Kung, Nelson N.S. Kung Department of Medicine, United Christian Hospital, Hong Kong, ChinaSearch for more papers by this authorJohn S. Waye, John S. Waye Provincial Hemoglobinopathy DNA Diagnostic Laboratory and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, Ontario, CanadaSearch for more papers by this authorL.C. Chan, L.C. Chan Hematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorDavid H.K. Chui, David H.K. Chui Provincial Hemoglobinopathy DNA Diagnostic Laboratory and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, Ontario, CanadaSearch for more papers by this author First published: 15 June 2000 https://doi.org/10.1002/1096-8652(200007)64:3<206::AID-AJH12>3.0.CO;2-%23Citations: 4AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract We report a case of β-thalassemia intermedia caused by compound heterozygosity for hemoglobin (Hb) Malay and codon 41/42 (-CTTT) β0-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 β-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 β-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 β-thalassemia major or intermedia. Am. J. Hematol. 64:206–209, 2000. © 2000 Wiley-Liss, Inc. Citing Literature Volume64, Issue3July 2000Pages 206-209 ReferencesRelatedInformation