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A benign form of thalassaemia intermedia may be determined by the interaction of triplicated α locus and heterozygous β‐thalassaemia
Author(s) -
Camaschella C.,
Bertero M. T.,
Serra A.,
Dall'Acqua M.,
Gasparini P.,
Trento M.,
Vettore L.,
Perona G.,
Saglio G.,
Mazza U.
Publication year - 1987
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1987.00001.x-i1
Subject(s) - phenotype , genetics , locus (genetics) , biology , heterozygote advantage , hemoglobinopathy , globin , allele , hemolytic anemia , gene , immunology
Summary. In this paper we report that the combination of a triplicated α globin locus with heterozygous β‐thalassaemia produces a clinical phenotype of thalassaemia intermedia in five Italian subjects from four unrelated families, while in two other cases the phenotype was thalassaemia minor. The haematological findings of the five patients were uniform, producing a benign form of thalassaemia intermedia, transfusion independent, with a long life expectancy. The pattern of inheritance of the two genetic determinants and the more pronounced β/α globin chain imbalance, demonstrates that the genetic combination is indeed the cause of the phenotype. The pattern of restriction enzyme site polymorphisms suggests the presence of the β IVS I 110 G→A mutation at least in three of these cases.