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A novel mediterranean “δβ‐thalassemia” determinant containing the δ + 27 and β°39 point mutations in cis
Author(s) -
Oggiano Lina,
Guiso Luciana,
Frogheri Laura,
Loudianos Georgios,
Pistidda Paola,
Rimini Elena,
Pirastu Mario,
Cao Antonio,
Longinotti Maurizio
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.2830450113
Subject(s) - microcytosis , thalassemia , point mutation , genetics , allele , hemoglobinopathy , biology , microbiology and biotechnology , heterozygote advantage , gene , mutation , medicine , hemolytic anemia , immunology , anemia , iron deficiency
The term δβ‐thalassemia with normal HbF has been recently proposed to define heterogenous δ and β globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing microcytosis, border‐line HbA 2 levels and normal HbF proved to be heterozygotes for δ + 27 and β°39 point mutations in cis by allele specific oligonucleotyde hybridization as well as by ECO 0 109 I endonuclease digestion and electrophoresis. As some of these β‐thalassemia carriers shows normal HbA 2 levels, knowledge of the molecular basis of this novel δβ‐thalassemia silent phenotype would be useful in thalassemia screening and genetic counselling. © 1994 Wiley‐Liss, Inc.