title: Clinical characteristics of pediatric thalassemia in Korea: a single institute experience.
abstract: Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University Children's Hospital in Korea. Nine children (1α thalassemia trait, 6β thalassemia minor, 2β thalassemia intermedia) were diagnosed with thalassemia at median age of 4.3 yr old with median hemoglobin of 9.7 g/dL. Seven (78%) children were incidentally found to be anemic and only 2 with β thalassemia intermedia had presenting symptoms. Five children (56%) were initially misdiagnosed with iron deficiency anemia. Despite the comorbidities due to α thalassemia mental retardation syndrome, the child with α thalassemia trait had mild hematologic profile. Children with β thalassemia intermedia had the worst phenotypes due to dominantly inherited mutations. None of the children was transfusion dependent and most of them had no complications associated with thalassemia. Only 1 child (11%) with codon 60 (T→A) mutation of the HBB gene needed red blood cell transfusions. He also had splenomegaly, cholelithiasis, and calvarial vault thickening. Pediatricians in Korea must acknowledge thalassemia as a possible diagnosis in children with microcytic hypochromic hemolytic anemia. High level of suspicion will allow timely diagnosis and managements.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. ; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Che Ry
authors.initials: CR
authors.lastname: Hong
authors.forename: Hyoung Jin
authors.initials: HJ
authors.lastname: Kang
authors.forename: Ji Won
authors.initials: JW
authors.lastname: Lee
authors.forename: Hyery
authors.initials: H
authors.lastname: Kim
authors.forename: Nam Hee
authors.initials: NH
authors.lastname: Kim
authors.forename: Kyung Duk
authors.initials: KD
authors.lastname: Park
authors.forename: June Dong
authors.initials: JD
authors.lastname: Park
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Hee Young
authors.initials: HY
authors.lastname: Shin
authors.forename: Hyo Seop
authors.initials: HS
authors.lastname: Ahn
mesh_terms: D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006442:Glycated Hemoglobin / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics; D006801:Humans; D008297:Male; D008499:Medical Records / Q000706:statistics & numerical data; D015995:Prevalence; D056910:Republic of Korea / Q000453:epidemiology; D012189:Retrospective Studies; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006442:Glycated Hemoglobin; D006443:Hemoglobin A2; D055542:alpha-Globins; D055544:beta-Globins
keywords: Child; Genotype; Korea; Phenotype; α-Thalassemia; β-Thalassemia