Evaluation of hemoglobin peptides analysis by mass-spectrometry in the screening of hemoglobinopathies / Soha Samir Nosier ; Supervised Yasser Hussein Nassar , Mona Mahmoud Ibrahim

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Medical Biochemistry

Hemoglobinopathies are inherited single-gene disorders that affect Hb production and function. It is estimated that around 7% of the world population carries a globin-gene mutation; and in the majority of cases, it is inherited as an autosomal recessive trait (Weatherall and clegg, 2001a). Thalassemia is caused by impaired synthesis of one or more globin chains which alter hemoglobin production. There are two types of thalassemia, alfa-(Ü) and beta-(Ý) thalassemia. The aim of the present work was to evaluate the use of tandem mass spectrometry in Hb variants{u2019} detection of hemoglobinopathies particularly Ý-thalassemia as the most common type in Egypt, in comparison to molecular results, as a cost effective means for future carrier detection. We also aimed for detection of some rare co-inherited Hb variants that could clarify phenotypic heterogeneity observed in some patients. Routine studies of inherited metabolic disorders (IMD) proved that early screening succeeded in the quantitative detection of Hb using tandem mass spectrometry, as it is potentially faster, more specific, and cost effective. Application of this method to analyze dried blood spot (DBS) samples from subsequently DNA-confirmed Ý-thalassemia patients will help to identify Hb peptides indicating the beta thalassemia disease

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