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Varna Medical Forum

Basic methods for investigating and proving sickle-cell anemia

Veneta Ilieva, Elena Manova, Mariela Metodieva, Yordanka Mihailova, Daniela Gerova

Abstract

Introduction: The sickle-cell anaemia (SCA) is a genetically determined disease, that is a major public health issue amongst not only the countries where it is traditionally quite common (Africa, Asia, America and the Mediterranean), but also the majority of European countries, where a significant increase of the frequency of the disease is observed.
Aim: To present methods used for screening and diagnose of SCA.
Discussion: The methods used for screening and diagnose of SCA can be classified into two main categories - routine ones and highly specialised laboratory methods. The routine tests include complete blood count, biochemical parameters to prove in vivo haemolysis, urine tests and the screening tests for presence of HbS e.g. sickling tests and solubility tests. In order to confirm the diagnosis of SCA the usage of protein separation techniques such as electrophoresis and high-performance liquid chromatography (HPLC) for detection of abnormal hemoglobin variants is of high importance. Concerning prenatal diagnostics DNA analysis is also used for detection of point mutation in the fetus beta gene of globin molecule.
Conclusion: In order to ensure with maximum of effectiveness the diagnostic process of this common hereditary disease, a good knowledge of all available screening and diagnostic methods is needed.


Keywords

Sickle cell anaemia; HbS; screening and diagnostic methods

Full Text


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