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- W2362320232 abstract "Objective To analyze the molecular abnormalities of β thalassemia intermedia in a Korean family with thalassemia intermedia. Methods Polymerase chain reaction(PCR), Southern blot hybridization and double strand DNA cycle sequencing were used to analyse α、β and γ globin gene organization.Results In the Korean family the interaction between a triplicated α globin locus and a heterozygous β thalassemia gave rise to a clinical phenotype of thalassemia. The molecular defect was a heterozygosity for a single β thalassemia mutation (β IVS Ⅱ 1 G→A) and a triplicated α globin gene(αα/ααα anti 3.7 ).Conclusion β thalassemia heterozygotes conjuncted with α globin gene triplication was the major cause of the β thalassemia intermedia in this Korean family." @default.
- W2362320232 created "2016-06-24" @default.
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- W2362320232 date "2000-01-01" @default.
- W2362320232 modified "2023-09-25" @default.
- W2362320232 title "Molecular diagnosis in a Korean family with thalassemia intermedia due to co inheritance of triplicated α-globin genes(αα/ααα~(anti 3.7)) and β-thalassemia trait(IVS-II-1 G→A)" @default.
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