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
Piero C GiordanoCornelis L Harteveld

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.

References

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Mar 17, 2005·Hemoglobin·Majid YavarianPiero C Giordano
Mar 4, 2006·British Journal of Haematology·Francisco J C PereiraLuísa Romão
Mar 17, 2006·Hemoglobin·Michelle J RuglessJohn M Old
Nov 21, 2008·Cancer Science·Shinya Toyokuni
Dec 24, 2008·Journal of Clinical Pathology·P C Giordano
Jun 3, 2009·International Journal of Laboratory Hematology·P Van DelftP C Giordano

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