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High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling.

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.
AuthorsI Panigrahi, P H Ahmed Rafeeq, V P Choudhry, R Saxena
JournalAmerican journal of hematology (Am J Hematol) Vol. 76 Issue 3 Pg. 297-9 (Jul 2004) ISSN: 0361-8609 [Print] United States
PMID15224373 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright 2004 Wiley-Liss, Inc.
Chemical References
  • Globins
  • Hemoglobin A2
  • Fetal Hemoglobin
Topics
  • Adolescent
  • Adult
  • Female
  • Fetal Hemoglobin (analysis)
  • Gene Deletion
  • Gene Frequency
  • Genetic Counseling
  • Globins (genetics)
  • Hemoglobin A2 (analysis)
  • Heterozygote
  • Humans
  • Male
  • alpha-Thalassemia (genetics)
  • beta-Thalassemia (genetics)

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