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

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:

• α-Thalassemia (α-thal)
• Hb H disease
• Hb Zürich–Albisrieden
• Hb variant

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Figure 1. Sanger sequencing chromatograms of the HBA1 gene show the c.178G > C (arrow) mutation in the son (upper) and his mother (lower).

Additional information

Funding

This study was supported by the Provincial Department of Science and Technology Agency of Guangdong [2021A1515220088], Guangdong Province, People’s Republic of China.