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A new α-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote

✍ Scribed by K. Indrak; Y.-C. Gu; J. Novotny; Dr. T. H. J. Huisman

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
145 KB
Volume
43
Category
Article
ISSN
0361-8609

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✦ Synopsis

Abstract

We have detected a novel α‐thalassemia‐2 with a large (18^+^ kb) deletion involving the α~1~‐and θ‐globin genes and the 3′ hypervariable region sequence. Unexpectedly, the heterozygote had a mild anemia with a marked microcytosis and hypochromia, and an in vitro α/β chain synthesis ratio of 0.62‐0.66. It is suggested that the deletion includes a sequence that is involved in the in cis regulation of the α~2~‐globin gene.

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