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.
Highlights
Alfa talasemi, alfa globin zinciri üretiminde azalma ya da tamamen kaybolma ile karakterize otozomal resesif bir hastalıktır
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
Summary
Isparta ve çevresinde alfa-talasemi kalıtsal mutasyonlarının dağılımı Alfa globin zinciri üretiminde azalma ya da tamamen kaybolma ile karakterize otozomal resesif bir hastalıktır. Isparta ve çevresinde en yaygın görülen alfa talasemi mutasyonu MED double gen delesyonu olarak bulundu. Alfa talasemi sıklığı ve mutasyon dağılımının bilinmesi prenatal tanı ve hasta bakımı için daha iyi danışmanlık yapılmasını sağlar [4,5].
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