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An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene

Autor: Pierre W. Wijermans, Peter van Delft, H. L. Haak, Ellen Rasp, Cornelis L. Harteveld, Piero C. Giordano

Publikováno v: Hemoglobin. 28(3)

The proband is an elderly woman (79 years of age) of Surinamese-Hindustani origin, suspected of being a carrier of a nondeletional alpha-thalassemia (thal) because of a moderate microcytic hypochromic anemia at normal ferritin levels and in the absen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fefcae016de14e5d20d35c100c4726bd
https://pubmed.ncbi.nlm.nih.gov/15481895

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A new Hb evanston allele [alpha14(A12)Trp --Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases

Autor: Pierre W. Wijermans, Florens G. A. Versteegh, Irene H. Van Rooijen‐Nijdam, Juliette E. L. M. de Ree, Pauline Ter Hal, Peter van Delft, Ellen Rasp, Piero C. Giordano, Peter J.M.J. Kok, John H. M. Souverijn, Cornelis L. Harteveld

Publikováno v: Hemoglobin. 28(1)

Hb Evanston [alpha14(A12)Trp --> Arg] is considered to be a rare alpha chain mutant, and was originally observed in two Black families in 1982, inducing a mild Hb H disease phenotype in a homozygous state for the -alpha3.7 deletion ( -alpha(Evanston)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d7be6c466af9e3bb50a2d03e4723175
https://pubmed.ncbi.nlm.nih.gov/15008259

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