Severe Hb H Disease Caused by Hb Zürich-Albisrieden ( HBA1 : c.178G>C): Another Case Report.

Hemoglobin(2022)

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摘要
Hb Zürich-Albisrieden, [α59(E8)Gly→Arg, : c.178G>C] is a rare and highly unstable α-globin chain variant. The involved mutation has been reported in both and genes. A few compound heterozygotes of Hb Zürich-Albisrieden and α-thalassemia have shown that this variant is associated with severe Hb H disease. We describe here another case of Hb Zürich-Albisrieden who presented with transfusion-dependent anemia beginning shortly after birth.
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关键词
Hb H disease,Hb Zürich–Albisrieden,Hb variant,α-Thalassemia (α-thal)
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