The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family

Hemoglobin. 2006;30(2):171-3. doi: 10.1080/03630260600642385.

Abstract

We have found an example of the nonsense beta-thalassemia (thal) mutation at codon 37 (TGG-->TAG; Trp-->Stop) in a Chinese family. The fetus, who inherited both parents' beta-thalassemic alleles, was a compound heterozygote for the codons 41/42 (-TCTT) and codon 37 (TGG-->TAG) mutations, and presented with the phenotype of severe beta-thal.

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Alleles
  • Asian People / genetics
  • Child, Preschool
  • China
  • Codon / genetics
  • Codon, Nonsense*
  • Cordocentesis
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics*
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis
  • Sequence Analysis, DNA
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / embryology
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Codon, Nonsense
  • Globins