Korean J Hematol 1997; 32(2):
Published online June 30, 1997
© The Korean Society of Hematology
제 2 Intervening Sequence 5'-절단부의 점돌연이(G→A)에 의한 가족성β-Thalassemia Minor 1례
최재홍, 이기형, 김승택, 최윤미, 박성섭, 조한익
충북대학교 의과대학 내과학교실,
한국보훈병원 임상병리과,
서울대학교 의과대학 임상병리학교실
A Familial Case of β-Thalassemia Minor due to a Point Mutation (G→A) at Position 1 in the Second Intervening Sequence
The thalassemias are congenital disorders in which globin chains are present in decreased amount or absent. Beta-thalassemia, a quite common disorder in Central Africa, the Middle East, and Southeast Asia, has been reported sporadically in Korea since 1988, and some mutations have been identified. We recently analysed the beta-gene complexes of a family diagnosed with beta-thalassemia minor. The patient was a 20-year-old female who visited our hospital because of anemia and jaundice since her childhood. Through blood tests and hemoglobin lectrophoresis, she was diagnosed as having beta-thalassemia minor. Subsequently, DNAs from the patient and her parents were analyzed in search of mutations in beta-gene complex. It was revealed that the patient and her father, a 50-year-old male, have G to A substitutions at position 1 in the second intervening sequence(IVS Ⅱ-1, G→A). The mutation was associated with silent mutation of C to T substitution at the codon 91(CTG→TTG). To our knowledge, this mutation has not been previously reported in Korea.
Keywords Beta-thalassemia; Point mutation; Korea;
PDF
Standard view
Export citation
Share Article
Korean J Hematol 1997; 32(2): 306-311
Published online June 30, 1997
Copyright © The Korean Society of Hematology.
제 2 Intervening Sequence 5'-절단부의 점돌연이(G→A)에 의한 가족성β-Thalassemia Minor 1례
최재홍, 이기형, 김승택, 최윤미, 박성섭, 조한익
충북대학교 의과대학 내과학교실,
한국보훈병원 임상병리과,
서울대학교 의과대학 임상병리학교실
A Familial Case of β-Thalassemia Minor due to a Point Mutation (G→A) at Position 1 in the Second Intervening Sequence
Jae Hong Choi, Ki Hyeong Lee, Seung Taik Kim, Youn Mi Choi, Sung Sup Park, Han Ik Cho
Department of Internal Medicine, Chungbuk National University College of Medicine, Cheongju, Korea
Department of Clinical Pathology, Korea Veterans Hospital, Seoul, Korea
Seoul National University College of Medicine, Korea
Abstract
The thalassemias are congenital disorders in which globin chains are present in decreased amount or absent. Beta-thalassemia, a quite common disorder in Central Africa, the Middle East, and Southeast Asia, has been reported sporadically in Korea since 1988, and some mutations have been identified. We recently analysed the beta-gene complexes of a family diagnosed with beta-thalassemia minor. The patient was a 20-year-old female who visited our hospital because of anemia and jaundice since her childhood. Through blood tests and hemoglobin lectrophoresis, she was diagnosed as having beta-thalassemia minor. Subsequently, DNAs from the patient and her parents were analyzed in search of mutations in beta-gene complex. It was revealed that the patient and her father, a 50-year-old male, have G to A substitutions at position 1 in the second intervening sequence(IVS Ⅱ-1, G→A). The mutation was associated with silent mutation of C to T substitution at the codon 91(CTG→TTG). To our knowledge, this mutation has not been previously reported in Korea.
Keywords: Beta-thalassemia, Point mutation, Korea,
Previous Article
