Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb rotterdam): Two novel α2 gene mutations associated with mild α-Thalassemia found in the same family after newborn screening
We report two novel α2-globin gene mutations found in the same Surinamese family. The proband, a newborn presenting during neonatal screening with 21.3 Hb Bart's (γ4), proved to be a carrier of the common α3.7 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 α3.7 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 αT determinant in the Black population. Screening and characterization of the mutations, phenotypegenotype correlation and the issue of reporting newborn carriers of α-thalassemia (α-thal) are discussed.
|Keywords||Anemia, Newborn screening, Prevention, α-Thalassemia (α-thal)|
|Persistent URL||dx.doi.org/10.3109/03630269.2010.486341, hdl.handle.net/1765/20515|
Giordano, P.C, Cnossen, M.H, Joosten, A.M.S, Jansen, C.A.M, Hakvoort, T.E, Bakker-Verweij, M, … Harteveld, C.L. (2010). Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb rotterdam): Two novel α2 gene mutations associated with mild α-Thalassemia found in the same family after newborn screening. Hemoglobin: international journal for hemoglobin research, 34(4), 354–365. doi:10.3109/03630269.2010.486341