Three new alpha-thalassemia point mutations ascertained through newborn screening

Hemoglobin. 2006;30(2):149-53. doi: 10.1080/03630260600642021.

Abstract

We report three new alpha-thalassemia (thal) point mutations detected during newborn screening for hemoglobinopathies. The first mutation is a single nucleotide deletion (-A) that abolishes the translation initiation codon of the alpha2-globin gene, detected in a newborn of Hmong ethnicity who carried the Southeast Asian alpha(0)-thal deletion (alpha(T)alpha/- -(SEA)). The second mutation, a frameshift caused by a single nucleotide deletion in exon 2 of the alpha1-globin gene [codon 78 (-C)], was detected in a Black/Chinese newborn who also carried the Southeast Asian alpha0-thal deletion (alphaalpha(T)/- -(SEA)). The third mutation was a frameshift in exon 3 of the alpha2-globin gene, codons 113/114 (-C). This mutation was detected in a newborn who carried the 3.7 kb alpha(+)-thal deletion (alpha(T)alpha/-alpha(3.7)).

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Asian People / genetics
  • Black People / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Codon / genetics
  • Codon, Nonsense
  • Ethnicity / genetics
  • Exons / genetics
  • Frameshift Mutation*
  • Genotype
  • Globins / chemistry
  • Globins / genetics*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Neonatal Screening
  • Point Mutation*
  • Sequence Deletion*
  • alpha-Thalassemia / genetics*

Substances

  • Codon
  • Codon, Nonsense
  • Hemoglobins, Abnormal
  • Globins
  • hemoglobin Bart's