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- Title
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.
- Authors
Giordano, Piero C; Cnossen, Marjon H; Joosten, Annemarie M S; Jansen, Cees A M; Hakvoort, Tineke E; Bakker-Verweij, Margreet; Arkesteijn, Sandra G J; van Delft, Peter; Waye, John S; Bouva, Marelle J; Harteveld, Cornelis L
- Abstract
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
Hemoglobin, 2010, Vol 34, Issue 4, p354
- ISSN
1532-432X
- Publication type
Journal Article
- DOI
10.3109/03630269.2010.486341