eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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4/2012
vol. 8
 
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abstract:

Clinical research
β-Globin chain abnormalities with coexisting α-thalassemia mutations

Birol Guvenc
,
Abdullah Canataroglu
,
Cagatay Unsal
,
Sule Menziletoglu Yildiz
,
Ferda Tekin Turhan
,
Sevcan Tug Bozdogan
,
Suleyman Dincer
,
Hakan Erkman

Arch Med Sci 2012; 8, 4: 644-649
Online publish date: 2012/05/29
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Introduction: The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.

Material and methods: We studied the association between the β-globin gene and α-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique.

Results: We evaluated 36 adult subjects (28 female and 8 male; age range:

18-52 years) with concomitant mutations in their α- and β-globin genes. The –α3.7/αα deletion was the commonest defect in the α-chain as expected, followed by α3.7/–α3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting a-thalassemia, while seven Hb S/S patients had concurrent mutations in their α-genes. The coexistence of αPolyA-2α/αα with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for β-globin chain (–α3.7/αα with IVSI.110/S), and also

a case who had –α3.7/αα deletion with IVSI.110/A.

Conclusions: Although limited, our data suggest that it would be valuable to study coexisting α-globin mutations in subjects with sickle cell disease or β-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies.
keywords:

α-globin gene, β-globin gene, mutation, S-a-thalassemia, sickle cell anemia

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