Publication: Curative stem cell transplantation for severe HbH disease manifesting from early infancy: Phenotypic and genotypic analyses
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Issued Date
2016-01-02
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ISSN
1532432X
03630269
03630269
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2-s2.0-84954401422
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Mahidol University
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SCOPUS
Bibliographic Citation
Hemoglobin. Vol.40, No.1 (2016), 70-73
Suggested Citation
Pacharapan Surapolchai, Nongnuch Sirachainan, Chi Chiu So, Suradej Hongeng, Samart Pakakasama, Usanarat Anurathapan, Ampaiwan Chuansumrit Curative stem cell transplantation for severe HbH disease manifesting from early infancy: Phenotypic and genotypic analyses. Hemoglobin. Vol.40, No.1 (2016), 70-73. doi:10.3109/03630269.2015.1105815 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/43135
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Curative stem cell transplantation for severe HbH disease manifesting from early infancy: Phenotypic and genotypic analyses
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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.