Article
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 - 1 Jan 2010
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 excerpt
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...
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