KMID : 0191120130280111645
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Journal of Korean Medical Science 2013 Volume.28 No. 11 p.1645 ~ p.1649
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Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience
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Hong Che-Ry
Kang Hyoung-Jin Lee Ji-won Kim Hye-Ry Kim Nam-Hee Park Kyung-Duk Park June-Dong Seong Moon-Woo Park Sung-Sup Shin Hee-Young Ahn Hyo-Seop
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Abstract
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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 (1¥á thalassemia trait, 6¥â thalassemia minor, 2¥â 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 ¥â thalassemia intermedia had presenting symptoms. Five children (56%) were initially misdiagnosed with iron deficiency anemia. Despite the comorbidities due to ¥á thalassemia mental retardation syndrome, the child with ¥á thalassemia trait had mild hematologic profile. Children with ¥â 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¡æA) 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.
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KEYWORD
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¥á-Thalassemia, ¥â-Thalassemia, Genotype, Phenotype, Child, Korea
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