title: 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.
authors.affiliation: Department of Hematology, All India Institute of Medical Sciences, IRCH Building 1st Floor, Ansari Nagar, New Delhi 110 029, India.
authors.forename: I
authors.initials: I
authors.lastname: Panigrahi
authors.forename: P H Ahmed
authors.initials: PH
authors.lastname: Rafeeq
authors.forename: V P
authors.initials: VP
authors.lastname: Choudhry
authors.forename: R
authors.initials: R
authors.lastname: Saxena
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D017353:Gene Deletion; D005787:Gene Frequency; D005817:Genetic Counseling; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D017085:alpha-Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin