Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(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: Lynda Walker, Margie Patterson, Barry Eng, Andrew McFarlane, John S Waye
• Journal: Hemoglobin (Hemoglobin) Vol. 29 Issue 4 Pg. 285-7 ( 2005) ISSN: 0363-0269 [Print] England
• PMID: 16370490 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin A2-Mumc
• Hemoglobin A2

Topics

• Adult
• Genotype
• Hemoglobin A2 (analysis, genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Mutation, Missense
• Point Mutation
• Polymorphism, Single Nucleotide
• beta-Thalassemia (genetics)