BJBS Article :: Hb Owari associated with a-thalassaemia-1 in a Taiwanese subject

Hb Owari associated with a-thalassaemia-1 in a Taiwanese subject

IN BRIEF: Br J Biomed Sci 2009; 66(4); 200-205

L-H. Wang^*, C-S Chang^†, L-L Hsieh^*, T-K Er^‡, J-G Chang^#, T-C Liu^†

^*Division of Molecular Diagnostics, Department of Laboratory Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
^†Division of Hematology and Oncology, Department of Internal Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
^‡Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
^#Institute of Clinical Medicine and College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan

KEY WORDS:

An abnormal haemoglobin, Hb Owari (HBA2:c,364 G>A; or HBA1) was first described in Japan by Hrano et al. in 1986.1 It is a non-pathological a-chain variant characterised by a mutation at the a121 position that changes valine to methionine (121[H4]Val>Met). It produces a neutral-toneutral amino acid substitution in the a-chain. The site of amino acid substitution (a121) can be determined by the chymotryptic digest fingerprinting of the core fraction of the a-chain, with the oxidised counterpart of the abnormal peptide (a118–22) easily found as an extra spot. The clinical presentation of heterozygous Hb Owari is normal, and the proportion of abnormal HbX is 12.7–19% of total haemoglobin. However, the compound heterozygote with other haemoglobinopathies had previously not been reported. This study presents a case of a compound heterozygote of Hb Owari with a-thalassaemia-1. [Contd]

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