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KMID : 0387820070140020192
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Clinical Pediatric Hematology-Oncology
2007 Volume.14 No. 2 p.192 ~ p.197
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Three Cases of β-thalassemia in Children with HBB Gene Mutation
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Kang Eun-Young
Lee Hyo-Jung
Choi Sam-Im
Park Eun-Hye
Kim Sun-Young
Hwang Pyoung-Han
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Abstract
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β thalassemia is an inherited anemia characterized by decreased or absent synthesis of β globin chain and known to be uncommon in Korea, but is recently reported more frequently in child. It should be considered in the differential diagnosis of hypochromic microcytic anemia. Hemoglobin (Hb) electrophoresis has shown an increased level of Hb A2 and/or Hb F fractions and the molecular analysis of β globin (HBB) gene must be investigated to identify mutation. We experienced three cases of β thalassemia: Two cases with a mutation of initiation codon (ATG→AGG) and one case with a mutation of codon 127 (CAG→CGG) of the β globin gene. We report three cases with a brief review of related literatures.
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KEYWORD
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HBB gene, Mutation, thalassemia
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