A Familial Case of beta-Thalassemia Minor due to a Point Mutation (G-->A) at Position 1 in the Second Intervening Sequence / 대한혈액학회지

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 analyzed 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 electrophoresis, 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.