Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening

Hemoglobin. 2010;34(4):354-65. doi: 10.3109/03630269.2010.486341.


We report two novel alpha2-globin gene mutations found in the same Surinamese family. The proband, a newborn presenting during neonatal screening with 21.3% Hb Bart's (gamma4), proved to be a carrier of the common -alpha(3.7) deletion and a novel codon 32 (ATG>AGG) transversion that we named Hb Rotterdam. The father carried the same point mutation with borderline hemoglobin (Hb), MCV and low MCH values. The mother presented with a significant microcytic hypochromic anemia and also carried the -alpha(3.7) deletion and a second novel TAT>TAG transversion generating a stop codon at position 24. Shortly thereafter, Hb Rotterdam was again found in two unrelated adult females and in a Canadian newborn, all of African origin, suggesting that Hb Rotterdam could be a frequently occurring alpha(T) determinant in the Black population. Screening and characterization of the mutations, phenotype/genotype correlation and the issue of reporting newborn carriers of alpha-thalassemia (alpha-thal) are discussed.

Publication types

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

MeSH terms

  • Adult
  • Codon / genetics*
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant, Newborn
  • Middle Aged
  • Mutation*
  • Neonatal Screening
  • Pedigree
  • alpha-Globins / genetics*
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*


  • Codon
  • Hemoglobins, Abnormal
  • alpha-Globins