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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 1
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Short Communications

Secondary Mutation (c.94_95delAG) in A −α3.7 Allele Associated with Hb H Disease in Two Unrelated African American Individuals Homozygous for the −α3.7 Deletion (−α3.7/−α3.7T)

, , , , &
Pages 103-107 | Received 14 Jun 2011, Accepted 28 Jun 2011, Published online: 21 Dec 2011
 

Abstract

Hb H disease is rarely seen in individuals of African descent although α-thalassemia (α-thal) is common in this population. Usually α-thal is due either to heterozygosity or homozygosity for the −α3.7 deletion in this population. We report Hb H disease that is caused by a frameshift mutation on one −α3.7 allele in two unrelated individuals homozygous for the −α3.7 deletion. These two cases highlight the importance of further investigation by direct sequencing of the –α3.7 allele when the thalassemic phenotype does not correlate with the genotype obtained by initial molecular testing.

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