Clin Pediatr Hematol Oncol.  2007 Oct;14(2):192-197.

Three Cases of beta-thalassemia in Children with HBB Gene Mutation

Affiliations
  • 1Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Korea. hwaph@chonbuk.ac.kr
  • 2Department of Laboratory Medicine, Chonbuk National University Medical School, Jeonju, Korea.
  • 3Research Institute of Clinical Medicine, Chonbuk National University Medical School, Jeonju, Korea.

Abstract

Beta thalassemia is an inherited anemia characterized by decreased or absent synthesis of beta 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 beta globin (HBB) gene must be investigated to identify mutation. We experienced three cases of beta thalassemia: Two cases with a mutation of initiation codon (ATG-->AGG) and one case with a mutation of codon 127 (CAG-->CGG) of the beta globin gene. We report three cases with a brief review of related literatures.

Keyword

HBB gene; Mutation; thalassemia

MeSH Terms

Anemia
beta-Globins
beta-Thalassemia*
Child*
Codon
Codon, Initiator
Diagnosis, Differential
Electrophoresis
Humans
Korea
Thalassemia
Codon
Codon, Initiator
beta-Globins
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