PMID: 9423815Jan 10, 1998Paper

Heterozygous beta-thalassemia with thalassemia intermedia phenotype

American Journal of Hematology
D GasperiniR Galanello

Abstract

In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the sole abnormality, the heterozygosity for the codon 39 nonsense mutation. The A gamma and Ggamma promoters as well as the HS2 and HS3 core sequences of the beta globin LCR from these patients, did not show any non-polymorphic nucleotide variation from the consensus sequence. One of the parents was heterozygous for codon 39 nonsense mutation but showed the beta-thalassemia carrier phenotype; the other was hematologically normal and had an entirely normal beta globin gene sequence. In both families, other members showed the typical hematological phenotype, clinically silent, of heterozygous beta thalassemia. To explain the thalassemia intermedia phenotype, we postulated the presence of an unknown molecular defect interacting with the beta globin gene mutation. Haplotype analysis excluded that this postulated defect lies in the beta globin gene cluster.

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Citations

Mar 1, 2010·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Vandana AryaMandakini Pradhan
Dec 23, 2003·British Journal of Haematology·Maria De AngiolettiClementina Carestia
Feb 1, 2006·British Journal of Haematology·Valeria FaàMaria Cristina Rosatelli
Feb 25, 2015·Hemoglobin·Jabbar KhanNaseruddin Hoti
Sep 30, 2000·Blood Reviews·P J Ho, S L Thein

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