The investigation of distribution of hereditary alpha-thalassemia mutations in Isparta reservoir

Recep Sütçü 1 * , Firdevs Aylak 1, Havva Koçak 1, Tansu Sipahi 2, Hüseyin Vural 1, Namık Delibaş 1
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1 SDÜ Tıp Fakültesi Tıbbi Biyokimya AD, Isparta, Türkiye
2 Ufuk Üniversitesi Tıp Fakültesi Pediatrik Hematoloji Bilim Dalı, Isparta, Türkiye
* Corresponding Author
EUR J BASIC MED SCI, Volume 1, Issue 1, pp. 28-32. https://doi.org/10.21601/ejbms/9164
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ABSTRACT

Thalassemia is an autosomal recessive disease characterized by the absence or decreased production of the alpha globin chain. The aim of this study was to make the valuable contributions to the map of thalassemia in Turkey and to help the clinicians who plan to cure the patients in our region. Among the individuals who applied to Hematology Department of SDU Medical Faculty with a suspected alpha thalassemia mutation, 25 were selected for present study. Mutations in alpha globin gene were detected by using α-globin StripAssayTM commercial kit. The principle of the assay is based on reverse hybridization. As a result, the most common alpha thalassemi mutations were MED double gene deletion, -20.5 kb single gene deletion, -3.7 single gene deletion and α2IVS 1-5 nt respectively, in Isparta reservoir.
Keywords: alpha globin chain, deletions, alpha thalassemia

CITATION

Sütçü R, Aylak F, Koçak H, Sipahi T, Vural H, Delibaş N. The investigation of distribution of hereditary alpha-thalassemia mutations in Isparta reservoir. Eur J Basic Med Sci. 2011;1(1):28-32. https://doi.org/10.21601/ejbms/9164

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