Two rare mutations in Turkey: IVS I.130(G–C) and IVS II.848(C–A)

Summary β‐Thalassemia, an autosomal recessive disease, results from mutations of the β‐globin gene. More than 40 different mutations found in Turkish β‐thalassemia patients are mostly composed of point mutations, and only in very rare cases a deletion or an insertion causes β‐thalassemia phenotypes....

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Published in:Clinical and laboratory haematology 2005-08, Vol.27 (4), p.274-277
Main Authors: NAL, N., MANGUOGLU, A. E., SARGIN, C. F., KESER, I., KUPESIZ, A., YESILIPEK, A., LULECI, G.
Format: Article
Language:English
Subjects:
beta-Thalassemia - diagnosis
beta-Thalassemia - genetics
Child
DNA - analysis
DNA - isolation & purification
HbS/β‐thalassemia
Hemoglobin, Sickle - genetics
Humans
IVS I. 130 (G–C)
IVS II. 848 (C–A)
Male
Point Mutation
rare mutations
Sequence Analysis, DNA - methods
Turkey - epidemiology
β‐Thalassemia
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Summary:Summary β‐Thalassemia, an autosomal recessive disease, results from mutations of the β‐globin gene. More than 40 different mutations found in Turkish β‐thalassemia patients are mostly composed of point mutations, and only in very rare cases a deletion or an insertion causes β‐thalassemia phenotypes. Here, we report two patients who were clinically diagnosed with β‐thalassemia major and HbS/β‐thalassemia respectively. We performed reverse dot blot hybridizaton method and automated sequence analysis to detect the mutations. One of the patients was found to be IVS I.130 (G–C) homozygous, the other was HbS/IVS II.848 (C–A) as compound heterozygous. The aim of this study was to report hematological and clinical findings in both cases related with β‐globin gene defects that are very rare.
ISSN:0141-9854
1365-2257
DOI:10.1111/j.1365-2257.2005.00691.x