Complex Hemoglobinopathies: Molecular Diagnosis and Therapeutic Implications

来源 :BIT`s 1st Annual International Symposium of Hematology-2012( | 被引量 : 0次 | 上传用户:chichilela
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  Accurate diagnosis ofhemoglobinopathies provides valuable diagnostic and prognostic options for clinicians and for couples who may have to consider family planning.Common hemoglobinopathies such as-thai,-thai, HPFH,-thal and abnormal Hbs (HbE, S, C, Lepore, D-Punjab, O-Arab) can be detected easily.However, the diagnosis of hemoglobinopathies in certain multiethnic countries and regions e.g.Australia, USA, Canada, Europe and the Gulf has become an increasing challenge.This is particularly so in Dubai which is home to more than 200 different nationalities.Dubai is the most heterogenous hemoglobinopathy nation in the world with 56-globin gene defects.Many complex hemoglobinopathies with extensive heterogeneity in genotype and variable phenotype exist from admixture of mutant genes where 1st cousin marriage is a norm and not an exception.Besides,-thal and-thal interactions occur at relatively high frequencies as-and-globin gene defects occur at 50% and 8.3%, respectively.This makes clinical diagnosis and laboratory evaluation much more challenging in a nation where 26% of the population is below age 15 and 71% is between ages 15-64.
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