Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.

Autor: Megawati D; The Eijkman Institute for Molecular Biology , Jakarta , Indonesia ., Nainggolan IM, Swastika M, Susanah S, Mose JC, Harahap AR, Setianingsih I
Jazyk: angličtina
Zdroj: Hemoglobin [Hemoglobin] 2014; Vol. 38 (2), pp. 149-51. Date of Electronic Publication: 2013 Dec 18.
DOI: 10.3109/03630269.2013.863206
Abstrakt: We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA2: c.179G > A) at codon 59 of the α2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.
Databáze: MEDLINE
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