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α-Thalassemia and the production of different α chain variants in heterozygotes

✍ Scribed by A. E. Felice; B. B. Webber; T. H. J. Huisman

Publisher
Springer
Year
1981
Tongue
English
Weight
681 KB
Volume
19
Category
Article
ISSN
0006-2928

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A new α-thalassemia-2 deletion resulting
A new α-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote
✍ K. Indrak; Y.-C. Gu; J. Novotny; Dr. T. H. J. Huisman 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB

## 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 rati