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

Hemoglobin. 2022 Nov;46(6):341-343. doi: 10.1080/03630269.2023.2165444. Epub 2023 Feb 23.

Abstract

Hb Zürich-Albisrieden, [α59(E8)Gly→Arg, HBA1: c.178G>C] is a rare and highly unstable α-globin chain variant. The involved mutation has been reported in both HBA1 and HBA2 genes. A few compound heterozygotes of Hb Zürich-Albisrieden and α0-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.

Keywords: Hb H disease; Hb Zürich–Albisrieden; Hb variant; α-Thalassemia (α-thal).

Publication types

  • Case Reports

MeSH terms

  • Anemia*
  • Glycated Hemoglobin
  • Hemoglobins, Abnormal* / genetics
  • Humans
  • Mutation
  • alpha-Globins / genetics
  • alpha-Thalassemia* / genetics

Substances

  • Glycated Hemoglobin
  • Hemoglobins, Abnormal
  • alpha-Globins