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Title: Co-inheritance of Hb Pak Num Po, a Novel α1 Gene Mutation, and α<sup>0</sup>Thalassemia Associated with Transfusion-Dependent Hb H Disease
Authors: Vip Viprakasit
Voravarn S. Tanphaichitr
Gavivann Veerakul
Worrawut Chinchang
Siripan Petrarat
Parichat Pung-Amritt
Douglas R. Higgs
Mahidol University
University of Oxford
John Radcliffe Hospital
Keywords: Medicine
Issue Date: 1-Mar-2004
Citation: American Journal of Hematology. Vol.75, No.3 (2004), 157-163
Abstract: Hb H disease is generally associated with moderate to severe anemia but rarely requires regular blood transfusion. We recently studied two apparently unrelated patients with transfusion-dependent Hb H disease. Hemoglobin studies demonstrated Hb H and Hb Bart's without other detectable abnormal globin species. Extensive molecular analyses of the α globin genes and their regulatory sequence (HS-40) revealed that both patients are compound heterozygotes for α0thalassemia (- -SEA) and a novel point mutation, a thymidine insertion after codon 131 of the α1 gene. The resulting frameshift gives rise to a highly unstable α globin chain, which we refer to as "Hb Pak Num Po," containing an additional 34 amino acids. This unusual α1 globin variant clearly causes α thalassemia, but the unexpectedly severe phenotype suggests that this mutation may have additional effects on red cell physiology. A PCR-based (ARMS) assay was developed for rapid detection of this novel mutation, and this might be useful to study the prevalence of this novel mutation which poses potentially significant clinical consequences in populations of Southeast Asia. Detecting carriers of this mutation using the molecular diagnostic procedures described will provide the means to screen and prevent a potentially severe form of α thalassemia in Thailand. © 2004 Wiley-Liss, Inc.
ISSN: 03618609
Appears in Collections:Scopus 2001-2005

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