Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia

Author:

Vinciguerra M.1,Passarello C.1,Cassarà F.1,Leto F.1,Cannata M.1,Calvaruso G.1,Di Maggio R.1,Renda D.1,Maggio A.1,Giambona A.1

Affiliation:

1. Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs; Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies; Villa Sofia-Cervello Hospital; Palermo Italy

Funder

Piera and Franco Cutino Foundation O.N.L.U.S

Publisher

Wiley

Subject

Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine

Reference36 articles.

1. Beta-thalassemia;Rund;N Eng J Med,2005

2. Gene structure and the nature of mutation;Kazazian;Mead Johnson Symp Perinat Develop Med,1983

3. Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta globin gene;Wong;Blood,1989

4. Beta thalassaemia mutations in Mediterranean populations;Cao;Br J Haemtol,1989

5. The population genetics of the haemoglobinopathies;Flint;Baillieres Clin Hemat,1998

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