Molecular Diagnosis of Genetic Diseases

Volume 5 of the series Methods in Molecular Medicine™ pp 169-183


Community Clues to Mutation Detection
  • John M. OldAffiliated withInstitute of Molecular Medicine, John Radcliffe Hospital

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The hemoglobinopathies are a diverse group of inherited recessive disorders consisting of the structural hemoglobin variants and the thalassemias. They can occur at very high carrier frequencies in the malarious regions of the world and are regionally specific, with each population having a unique combination of structural variants and thalassemia mutations. Therefore, knowledge of the ethnic origin of a patient is usually essential for the quick identification of the underlying molecular defect(s) in the globin genes.