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Genotype of subjects with borderline hemoglobin A2 levels: Implication for, β‐thalassemia carrier screening
Author(s) -
Galanello R.,
Barella S.,
Ideo A.,
Gasperini D.,
Rosatelli C.,
Paderi L.,
Paglietti E.,
Sollaino C.,
Perseu L.,
Loi D.,
Cao A.
Publication year - 1994
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.2830460204
Subject(s) - thalassemia , genotype , heterozygote advantage , hemoglobin , mutation , beta thalassemia , hemoglobinopathy , globin , genetics , compound heterozygosity , gene , gene mutation , hemoglobin a2 , biology , medicine , microbiology and biotechnology , hemolytic anemia
In this study, we have defined by molecular analysis, the α, β, and δ globin genotype in a group of individuals with normal or thal‐like red cell indices but borderline hemoglobin (Hb)A2 levels, who were identified in a program for β‐thal carrier screening. In 37 of 125 individuals with borderline HbA2 levels, we detected a molecular defect in the β, in both the δ and the β, or in the α globin gene. Specifically seven of these subjects were carriers of the −101 C T mutation, ten of the IVSI nt6 T C mutation, 16 were double heterozygotes for δ and β thal, and two had the triple α globin gene and two the single α globin gene deletion. From these results, we may conclude that subjects with borderline HbA2, particularly when they marry a typical β‐thal carrier, should be extensively investigated in order not to miss heterozygous β‐thalassemia. © 1994 Wiley‐Liss, Inc.