Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].
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.
Walker
Lynda
L
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Patterson
Margie
M
Eng
Barry
B
McFarlane
Andrew
A
Waye
John S
JS
D000328:Adult; D005838:Genotype; D006443:Hemoglobin A2 / Q000032:analysis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C508162:hemoglobin A2-Mumc; D006443:Hemoglobin A2