Curative Stem Cell Transplantation for Severe Hb H Disease Manifesting From Early Infancy: Phenotypic and Genotypic Analyses

Abstract

Most people with Hb H disease live normal lives; however, a minority of cases requires lifelong regular transfusions. An atypical form of nondeletional Hb H disease was reported in a Thai boy, characterized by severe persistent hemolytic anemia since the age of 2 months. Molecular diagnosis revealed the apparent compound heterozygosity for the Southeast Asian (− −^SEA) and α2 polyadenylation (polyA) signal (AATAAA>AATA− −) deletions. The proband was successfully treated with allogeneic hematopoietic stem cell transplantation (HSCT). Accurate phenotypic and genotypic diagnosis in atypically severe Hb H disease is helpful for the understanding of its pathophysiology, the institution of appropriate management, and provision of genetic counseling and prenatal diagnosis. Hematopoietic stem cell transplantation is a potentially curative treatment option for this severe α-thalassemia (α-thal) syndrome.

• Hematopoietic stem cell transplantation (HSCT)
• nondeletional Hb H disease
• polyadenylation (polyA) signal mutation
• severe α-thalassemia (α-thal)

Acknowledgements

We are indebted to all pediatricians at Ramathibodi Hospital, Mahidol University, Bangkok, Thailand and at the referral hospital (Photharam Hospital, Ratchaburi, Thailand) who cared for the patient. We are grateful to the proband and his family for their contribution to this study.

Declaration of interest

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