Recent Advances In Diagnosis of Thalassemia
Journal Title: Journal of Indus Medical College - Year 2019, Vol 2, Issue 2
Abstract
Mutations and/or deletions in the α-globin or β-globin genes cause hereditary hemoglobin disorders. Thalassemia is caused by haemoglobin structural abnormalities due to quantitative abnormalities, and hemoglobinopathies. With a rapid influx of people from endemic areas and marriages in blood relations, the incidence of thalassemia and hemoglobinopathy is growing. Therefore the disease knowledge is required. The α-thalassemias are induced by α-globin gene deletions, whereas β-thalassemias are associated with reduced β-globin synthesis due to mutations in the β-globin gene. Hemoglobinopathies include structural changes of hemoglobin in the α- or β-globin chains due to altered amino acid sequences. The next step is to detect hemoglobin abnormality using electrophoresis techniques, including high-performance liquid chromatography and mass spectrometry, if the patient is suspected of thalassemia / hemoglobinopathy from irregular complete blood count findings and/or family history. A more accurate molecular diagnosis of thalassemia / hemoglobinopathy is enabled by the advancement of innovative molecular genetic technologies, such as massively parallel sequencing. In addition, genetic testing for prenatal diagnosis allows the prevention of birth and pregnancy complications from thalassemia. The goal was to review the range and classification of diseases of thalassemia / hemoglobinopathy and diagnostic methods, including screening tests, molecular genetic tests, and prenatal diagnosis.
Authors and Affiliations
Shahzad Ali Jiskani
Keywords
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