CODON 24 (TAT &gt; TAG) AND CODON 32 (ATG &gt; AGG) (Hb ROTTERDAM): TWO NOVEL alpha 2 GENE MUTATIONS ASSOCIATED WITH MILD alpha-THALASSEMIA FOUND IN THE SAME FAMILY AFTER NEWBORN SCREENING

Giordano, P.C.; Cnossen, M.H.; Joosten, A.M.S.; Jansen, C.A.M.; Hakvoort, T.E.; Bakker-Verweij, M.; Arkesteijn, S.G.J.; Delft, P. van; Waye, J.S.; Bouva, M.J.; Harteveld, C.L.

doi:doi:10.3109/03630269.2010.486341

We report two novel alpha 2-globin gene mutations found in the same Surinamese family. The proband, a newborn presenting during neonatal screening with 21.3% Hb Bart's (gamma 4), 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)...Show moreWe report two novel alpha 2-globin gene mutations found in the same Surinamese family. The proband, a newborn presenting during neonatal screening with 21.3% Hb Bart's (gamma 4), 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.Show less

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CODON 24 (TAT > TAG) AND CODON 32 (ATG > AGG) (Hb ROTTERDAM): TWO NOVEL alpha 2 GENE MUTATIONS ASSOCIATED WITH MILD alpha-THALASSEMIA FOUND IN THE SAME FAMILY AFTER NEWBORN SCREENING