Molecular analysis of thalassemia.

Molecular Analysis of Japanese # { 246 } fl - Thalassemia

A DNA fragment containing the deletion junction region from a Japanese individual with homozygous #{246} 8-thalassemia has been cloned. A clone containing the normal DNA surrounding the 3’ breakpoint of this deletion and a clone carrying the G’yand ky-globin genes of this patient were also isolated. Sequences of the deletion junction and both ‘y-globin genes were determined. A comparison of the...

Molecular Basis of α-Thalassemia in Iran

Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the fr...

Molecular Basis of Thalassemia

Molecular Analysis of fl#{176}-Thalassemia Intermedia in Sardinia

In this study we have carried out aand -globin gene analysis and defined the fl-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the j9-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We ...

Molecular Diagnostics of β-Thalassemia

A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations. We describe the current diagnostic strategy for the identification of β-thalassemias and hemoglobin (Hb) variants at the International Reference Laboratory for Haemoglobinopathies, Research Centre for Genetic Engineering and Biotechnology (...