Secondary mutation (c.94_95delAG) in a -α3.7 allele associated with Hb H disease in two unrelated African American individuals homozygous for the -α(3.7) deletion (-α3.7/-α3.7T)

Hemoglobin. 2012;36(1):103-7. doi: 10.3109/03630269.2011.642915. Epub 2011 Dec 21.

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 -α(3.7) deletion in this population. We report Hb H disease that is caused by a frameshift mutation on one -α(3.7) allele in two unrelated individuals homozygous for the -α(3.7) deletion. These two cases highlight the importance of further investigation by direct sequencing of the -α(3.7) allele when the thalassemic phenotype does not correlate with the genotype obtained by initial molecular testing.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Black or African American
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation*
  • Hemoglobin H / genetics*
  • Homozygote
  • Humans
  • Male
  • Sequence Deletion*
  • alpha-Globins / genetics
  • alpha-Thalassemia / genetics*

Substances

  • alpha-Globins
  • Hemoglobin H