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Published on: September 6, 2017
High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling
I Panigrahi1, P H Ahmed Rafeeq, V P Choudhry
1Department of Hematology, All India Institute of Medical Sciences, IRCH Building 1st Floor, Ansari Nagar, New Delhi 110 029, India.
Abstract:
Thalassemias are a group of genetic hemolytic disorders with varying phenotypes. In this study, the frequency of alpha globin gene deletions was studied in the beta-thalassemia trait, the mildest form of the disorder. Eleven out of 33 (33%) individuals were positive for alpha(-3.7 kb) deletions. None of the subjects was positive for the Southeast Asian deletion. Such a high frequency for alpha deletions has not been reported earlier in thalassemia minor. Hematological parameters are compared, and implications of this finding for genetic counseling are discussed.
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