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Hemoglobin
international journal for hemoglobin research
Volume 12, 1988 - Issue 1
33
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Original Article

HB Duan [α75(EF4)ASP→ALA), HB Westmead [α122(H5)HIS→GLN], and α-Thalassemia-2 (-4.2 KB Deletion) in a Chinese Family

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Pages 13-21 | Received 05 Oct 1987, Accepted 14 Dec 1987, Published online: 07 Jul 2009
 

Abstract

Detailed data are presented concerning the relative amounts of Hb A and two α chain variants (Hb Duan with α75 Asp→Ala, and Hb Westmead with α 122 His→Gln), and the occurrence of an α-thalas-semia-2 heterozygosity in five members of a small Chinese family. The three children who have the three abnormalities inherited the α-Duan and a-thalassemia-2 heterozygosities from their father, and the α-Westmead heterozygosity from their mother. The base substitution which leads to the synthesis of the a-Duan chain occurred at codon 75 of the α1 globin gene of the chromosome which also carried the α-thalassemia-2 deletion; the concentration of α-Duan (37% of total α) is similar to that observed for other α chain variants, linked to an α-thalassemia-2 condition.

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