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

Shao-Min Wu1, Su-Ran Huang1, Chan Li1

  • 1Prenatal Diagnosis Center, Affiliated Dongguan Hospital, Southern Medical University (Dongguan People's Hospital), Dongguan, Guangdong Province, People's Republic of China.

Hemoglobin
|February 23, 2023
PubMed

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 diseaseHb Zürich–AlbisriedenHb variantα-Thalassemia (α-thal)

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