| A Case of Dominantly Inherited β Thalassemia
Due to Hb Dieppe |
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You Kyoung Choi1, Hong Jin Lee1, Won Il Park1, Kyung Ja Lee1, Sung Ha Kang2, Ji Yeon Kim3, Sung Sup 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 |
| Hb Dieppe에 의한 우성유전 베타 지중해빈혈 1례 |
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최유경1, 이홍진1, 박원일1, 이경자1, 강성하2, 김지연3, 박성섭4 |
1한림대학교 의과대학 소아과학교실
2한림대학교 의과대학 임상병리학교실
3서울대학교 의과대학 임상병리학교실
4서울대학교병원 임상의학연구소 |
Correspondence:
Kyung Ja Lee, Email: KJLmd@hallym.or.kr
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| Abstract |
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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. |
| Key Words:
Dominantly inherited β thalassemia, Hb Dieppe |
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