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Hemoglobin
international journal for hemoglobin research
Volume 28, 2004 - Issue 4
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Original Article

A Novel Approach to Rapid Determination of βS‐Globin Haplotypes: Sequencing of the Aγ‐IVS‐II Region

, , , , , , & show all
Pages 317-323 | Received 21 Mar 2004, Accepted 21 Jun 2004, Published online: 24 Aug 2009
 

Abstract

β‐Globin gene cluster haplotypes were originally determined by restriction endonuclease mapping with Southern blots of polymorphic sites around the gene cluster. Over the years, haplotyping has been found to be useful, not only in population genetics but also in predicting the severity of hemoglobinopathies such as sickle cell disease. The sickle mutation occurs on five distinct haplotypes. The hitherto used methods are cumbersome and time‐consuming, making haplotype determination a tedious procedure. We report our experience with a novel, rapid approach to haplotyping based on sequence polymorphisms in the Aγ‐IVS‐II region. We provide an algorithm that allows rapid assignment of the four African haplotypes carrying the sickle mutation.

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