An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene

Hemoglobin. 2008;32(4):419-24. doi: 10.1080/03630260802173619.

Abstract

In a family of Spanish origin, five individuals presented a heterozygous alpha(0)-thalassemia (alpha-thal)-like phenotype. All had a -alpha(3.7) deletion with the recombinant alpha gene carrying the Hb Suan-Dok [alpha109(G16)LeuArg] mutation, proposed to be thalassemic. Thus, the abnormal chromosome carried an alpha(0)-thal-like allele that has to be taken into account for genetic counseling and prenatal diagnosis. The possibility of Hb H disease or hydrops fetalis should be considered when this allele is associated with alpha(+)-thal or with another alpha(0)-thal, respectively. Other described genotypes associated with Hb Suan-Dok are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged, 80 and over
  • Child
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Recombination, Genetic
  • Spain
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Suan-Dok