Molecular basis of hemoglobinopathies

The P-globin gene is a relatively small gene (<2000 bp) located in the short arm of chromosome 11. Although more than 180 causative mutations have been reported for P-thalassemia syndromes (http://www.globin.cse.psu. edu), in any given population, there are a limited number of common mutations and a slightly larger number of rare mutations. The majority of common mutations tend to cluster within neighboring gene regions, and this facilitates the use of a small number of probe sets for mutation detection.

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