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Genetic counseling and genetic heterogeneity in the thalassemias
Author(s) -
Paglietti E.,
Galanello R.,
Addis M.,
Cao A.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb01209.x
Subject(s) - thalassemia , genetic counseling , heterozygote advantage , genetics , genotype , phenotype , biology , genetic heterogeneity , hemoglobinopathy , compound heterozygosity , gene , globin , beta thalassemia , hemolytic anemia , immunology
In this study, we have compared the hemoglobin A 2 levels (Hb A 2 ) of α‐thalassemia carriers (‐α/‐α and ‐α/αα genotypes) with those of double heterozygotes for δ + and β° thalassemia genes, who were identified by family studies and polymorphic restriction site analysis within the β‐globin gene cluster. We found that double heterozygotes for the δ + and β° thalassemia have significantly (p<0.001) higher Hb A 2 levels as compared with carriers of α‐thalassemia. This finding has practical implications in the genetic counseling of subjects with a thalassemia‐like phenotype associated with normal or borderline Hb A 2 levels.