Journal article
Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A2-MUMC [δ13(A10)Ala → Asp]
Abstract
We describe a case of beta-thalassemia (thal) trait in which the patient also carries a novel delta chain variant due to a missense mutation at amino acid codon 13 (GCC-->GAC, Ala-->Asp). The level of Hb A2 was not elevated, raising the potential for misdiagnosis.
Authors
Walker L; Patterson M; Eng B; McFarlane A; Waye JS
Journal
Hemoglobin, Vol. 29, No. 4, pp. 285–287
Publisher
Taylor & Francis
Publication Date
January 2005
DOI
10.1080/03630260500310794
ISSN
0363-0269