title: 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.
authors.affiliation: a Department of Pediatrics , Faculty of Medicine, Thammasat University , Pathumthani , Thailand .
authors.forename: Pacharapan
authors.initials: P
authors.lastname: Surapolchai
authors.affiliation: b Department of Pediatrics , Faculty of Medicine, Ramathibodi Hospital, Mahidol University , Bangkok , Thailand .
authors.forename: Nongnuch
authors.initials: N
authors.lastname: Sirachainan
authors.affiliation: c Department of Pathology , Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong , Hong Kong SAR , People's Republic of China.
authors.forename: Chi-Chiu
authors.initials: CC
authors.lastname: So
authors.affiliation: b Department of Pediatrics , Faculty of Medicine, Ramathibodi Hospital, Mahidol University , Bangkok , Thailand .
authors.forename: Suradej
authors.initials: S
authors.lastname: Hongeng
authors.affiliation: b Department of Pediatrics , Faculty of Medicine, Ramathibodi Hospital, Mahidol University , Bangkok , Thailand .
authors.forename: Samart
authors.initials: S
authors.lastname: Pakakasama
authors.affiliation: b Department of Pediatrics , Faculty of Medicine, Ramathibodi Hospital, Mahidol University , Bangkok , Thailand .
authors.forename: Usanarat
authors.initials: U
authors.lastname: Anurathapan
authors.affiliation: b Department of Pediatrics , Faculty of Medicine, Ramathibodi Hospital, Mahidol University , Bangkok , Thailand .
authors.forename: Ampaiwan
authors.initials: A
authors.lastname: Chuansumrit
mesh_terms: D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D026723:Polyadenylation; D017384:Sequence Deletion; D033581:Stem Cell Transplantation; D014184:Transplantation, Homologous; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*
chemical_list: D006447:Hemoglobin H
keywords: Hematopoietic stem cell transplantation (HSCT); nondeletional Hb H disease; polyadenylation (polyA) signal mutation; severe α-thalassemia (α-thal)