Pacharapan SurapolchaiNongnuch SirachainanChi Chiu SoSuradej HongengSamart PakakasamaUsanarat AnurathapanAmpaiwan ChuansumritFaculty of Medicine, Thammasat UniversityMahidol UniversityThe University of Hong Kong2018-12-112019-03-142018-12-112019-03-142016-01-02Hemoglobin. Vol.40, No.1 (2016), 70-731532432X036302692-s2.0-84954401422https://repository.li.mahidol.ac.th/handle/123456789/43135© 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyArticleSCOPUS10.3109/03630269.2015.1105815