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High frequency of deletional α‐thalassemia in β‐thalassemia trait: Implications for genetic counseling
Author(s) -
Panigrahi I.,
Rafeeq P.H. Ahmed,
Choudhry V.P.,
Saxena R.
Publication year - 2004
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20083
Subject(s) - thalassemia , genetic counseling , hemoglobinopathy , genetics , phenotype , trait , beta thalassemia , medicine , biology , hemolytic anemia , gene , computer science , programming language
Thalassemias are a group of genetic hemolytic disorders with varying phenotypes. In this study, the frequency of α globin gene deletions was studied in the β‐thalassemia trait, the mildest form of the disorder. Eleven out of 33 (33%) individuals were positive for α −3.7 kb deletions. None of the subjects was positive for the Southeast Asian deletion. Such a high frequency for α deletions has not been reported earlier in thalassemia minor. Hematological parameters are compared, and implications of this finding for genetic counseling are discussed. Am. J. Hematol. 76:297–299, 2004. © 2004 Wiley‐Liss, Inc.