All issues > Volume 45(5); 2002

Case Report

J Korean Pediatr Soc. 2002;45(5):659-663. Published online May 15, 2002.

A Case of Dominantly Inherited β Thalassemia Due to Hb Dieppe

You Kyoung YK Choi¹, Hong Jin HJ Lee¹, Won Il WI Park¹, Kyung Ja KJ Lee¹, Sung Ha SH Kang², Ji Yeon JY Kim³, Sung Sup SS Park⁴

¹Departments of Pediatrics, College of Medicine, Hallym University, Chunchon, Korea
²Departments of Clinical Pathology, College of Medicine, Hallym University, Chunchon, Korea
³Departments of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea
⁴Departments of Clinical Research Insititute, College of Medicine, Seoul National University, Seoul, Korea

Correspondence Kyung Ja KJ Lee ,Email: KJLmd@hallym.or.kr

Abstract

β thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of β thalassemia have been identified in individuals who have inherited a single copy of an abnormal β globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 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 β thalassemias is heterogeneous. The authors studied the first Korean case of dominantly inherited β thalassemia due to Hb Dieppe. Hb Dieppe is a missense mutation of β codon 127(CAG→CGG)Gln→Arg. The patient in this case was characterized by moderate anemia, hypochromia, microcytosis, elevated Hb A2 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.

Keywords :Dominantly inherited β thalassemia, Hb Dieppe