Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Hb Dieppe에 의한 우성유전 베타 지중해빈혈 1례

A Case of Dominantly Inherited β Thalassemia Due to Hb Dieppe

  • 최유경 (한림대학교 의과대학 소아과학교실) ;
  • 이홍진 (한림대학교 의과대학 소아과학교실) ;
  • 박원일 (한림대학교 의과대학 소아과학교실) ;
  • 이경자 (한림대학교 의과대학 소아과학교실) ;
  • 강성하 (한림대학교 의과대학 임상병리학교실) ;
  • 김지연 (서울대학교 의과대학 임상병리학교실) ;
  • 박성섭 (서울대학교병원 임상의학연구소)
  • Choi, You Kyoung (Department of Pediatrics, College of Medicine, Hallym University) ;
  • Lee, Hong Jin (Department of Pediatrics, College of Medicine, Hallym University) ;
  • Park, Won Il (Department of Pediatrics, College of Medicine, Hallym University) ;
  • Lee, Kyung Ja (Department of Pediatrics, College of Medicine, Hallym University) ;
  • Kang, Sung Ha (Department of Clinical Pathology, College of Medicine, Hallym University) ;
  • Kim, Ji Yeon (Department of Clinical Pathology, College of Medicine, Seoul National University) ;
  • Park, Sung Sup (Seoul National University Clinical Research Insititute)
  • 투고 : 2001.08.31
  • 심사 : 2001.10.30
  • 발행 : 2002.05.15
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초록

저자들은 상염색체 우성으로 유전되는 경한 저색소성 소구성 빈혈을 보이고 ${\beta}$ 유전자의 127번째 코돈 이 CAG에서 CGG로 치환되는 과오돌연변이로 인하여 매우 불안정한 베타 사슬 변이체를 만드는 우성유전 베타 지중해빈혈을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

${\beta}$ thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of ${\beta}$ thalassemia have been identified in individuals who have inherited a single copy of an abnormal ${\beta}$ globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) $A_2$ and Hb F levels. In particular, there are inclusion bodies in the erythroid precursors and peripheral red blood cells after splenectomy. The molecular basis of these dominant ${\beta}$ thalassemias is heterogeneous. The authors studied the first Korean case of dominantly inherited ${\beta}$ thalassemia due to Hb Dieppe. Hb Dieppe is a missense mutation of ${\beta}$ codon $127(CAG{\rightarrow}CGG)Gln{\rightarrow}Arg$. The patient in this case was characterized by moderate anemia, hypochromia, microcytosis, elevated Hb $A_2$ levels, elevated Hb F levels and splenomegaly. The father of the patient also has the same disease. We report this case and review related literature.

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