Three new alpha-thalassemia point mutations ascertained through newborn screening
Author(s):
Eng, Barry; Patterson, Margie; Walker, Lynda; Hoppe, Carolyn; Azimi, Mahin; Lee, Helen; Giordano, Piero C.; Waye, John S.
Format:
Journal article
Citation:
Hemoglobin, Volume 30, Issue 2 (2006). pp. 149-153.
Language:
English
Abstract:
We report three new alpha-thalassemia (thal) point mutations detected during newborn screening for hemoglobinopathies. The first mutation. is a single nucleotide deletion (-A) that abolishes the translation initiation codon of the alpha 2-globin. gene, defected in a newborn, of Hmong ethnicity who carried the Southeast Asian alpha(0)-thal deletion (alpha(T)alpha/- -(SEA)). The second mutation, a frameshift caused by a single nucleolide deletion in exon 2 of the alpha 1-globin gene [codan 78 (-C)], was detected in a. Black/ Chinese newborn who also carried the Southeast Asian alpha(0)-thal deletion (alpha alpha(T)/- -(SEA)). The third mutation was a frameshift in exon 3 of the alpha 2-globin gene, codons 113/114 (-C). This mutation was detected in a newborn who carried the 3.7 kb alpha(+)-thal deletion (alpha(T)alpha/-alpha(3.7)).