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Title: Curative stem cell transplantation for severe HbH disease manifesting from early infancy: Phenotypic and genotypic analyses
Authors: Pacharapan Surapolchai
Nongnuch Sirachainan
Chi Chiu So
Suradej Hongeng
Samart Pakakasama
Usanarat Anurathapan
Ampaiwan Chuansumrit
Faculty of Medicine, Thammasat University
Mahidol University
The University of Hong Kong
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 2-Jan-2016
Citation: Hemoglobin. Vol.40, No.1 (2016), 70-73
Abstract: © 2015 Taylor & Francis. 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.
ISSN: 1532432X
Appears in Collections:Scopus 2016-2017

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