Phenotypic Variability in a Chinese Family with Nondeletional Hb H-Hb Quong Sze Disease

Abstract

Hb H (β4) disease is the most common form of thalassemia intermedia. Two main types of Hb H disease, deletional and nondeletional, are characterized. Patients with nondeletional Hb H disease are usually more anemic with organomegaly; some may require regular blood transfusions and even be as severely affected as Hb H hydrops fetalis. However, there is no clear genotype-phenotype correlation associated with this severe clinical syndrome as patients with identical genotypes do not necessarily show the same severity. In this report, we described two nondeletional Hb H-Hb Quong Sze [α125(H8)Leu→Pro, CTG>CCG (α2)] disease individuals in a family who presented with phenotypic variability.

• α-Thalassemia (α-thal)
• Hb H disease
• Hb Quong Sze
• Phenotype

ACKNOWLEDGMENTS

This study was supported by Guangzhou Technology Bureau Scientific and Technological Support Project (2009Z1-E131) and Guangzhou Health Bureau (2008-Zdi-06).

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