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Pitfalls in genetic counselling for β‐thalassemia: an individual with 4 different thalassemia mutations
Author(s) -
Galanello R.,
Paglietti M. E.,
Addis M.,
Melis M. A.,
Tuveri T.,
Furbetta M.,
Cao A.
Publication year - 1988
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.1399-0004.1988.tb03430.x
Subject(s) - thalassemia , genetics , genetic counseling , beta thalassemia , haplotype , mutation , biology , phenotype , gene , beta (programming language) , medicine , allele , computer science , programming language
This paper describes a complex combination of four thalassemia genes (δ+, β o , nondeletion and deletion α‐thalassemia) in the spouse of a typical high Hb A2 β‐thalassemia carrier presenting for genetic counselling. This complex gene combination resulted in a hematological phenotype, characterized by thalassemia‐like red cell indices, normal Hb A2 and Hb F levels and slightly reduced α/β globin chain synthesis ratio, and therefore not indicative for the presence of β‐thalassemia trait. Family studies in combination with α‐globin gene mapping, haplotype analysis at the β‐globin gene cluster and definition of the β‐thalassemia mutation by oligonucleotide hybridization led us to identify a β‐thalassemia mutation, to define the molecular basis for this phenotype and give the appropriate genetic counselling.