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Molecular analysis of hemoglobin H disease in Taiwan
H H Lee1, W F Cheung, J G Chang
1Department of Medical Research, Veterans General Hospital, Taipei, Taiwan, Republic of China.
Abstract:
The molecular basis of seven Chinese patients in Taiwan with hemoglobin H disease was investigated and was found to be heterogeneous in the mutation type. They were alpha-thalassemia-1 mutation combined with hemoglobin Constant Spring, an undetermined nondeletion form of alpha-thalassemia and a deletion form of alpha-thalassemia-2 mutations. The alpha-thalassemia-1 mutation was shown to be the --SEA type I haplotype.