α-talaseminin laboratuvar tanısı, doğrulayıcı tanı için moleküler analiz gerektirmektedir. ![]() Despite the advantages and disadvantages of different techniques, the routine method employed in the laboratory should be based on the facility, expertise, available equipment, and economic conditions.Īlfa talasemi (α-talasemi), α globin zincir üretiminin azalması ya da yokluğu nedeniyle otozomal resesif geçişli bir hastalıktır. Recently, next-generation sequencing was introduced in the diagnosis of both deletion and point mutations of α-thalassemia. Sanger sequencing is widely used to detect non-deletion mutations of α-thalassemia. Furthermore, the reverse dot blot analysis and a single tube multiplex polymerase chain reaction could detect non-deletion mutation of the α-globin gene. Multiplex gap-polymerase chain reaction, single-tube multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification, and loop-mediated isothermal amplification were used to detect common deletion of α-thalassemia. This review focused on the molecular techniques used to detect α-thalassemia, and the advantages and disadvantages of each technique were highlighted. A screening test, comprising complete blood count, blood smear and hemoglobin quantification by high performance liquid chromatography and capillary electrophoresis, may not possibly detect all the thalassemia diseases. Laboratory diagnosis of α-thalassemia requires molecular analysis for the confirmatory diagnosis. ![]() Alpha thalassemia (α-thalassemia) is an autosomal recessive disorder due to the reduction or absence of α globin chain production.
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