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 β-thalassemia (thal) trait in which the patient also carries a novel δ 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.

• δ Chain variant
• Missense mutation
• β-Thalassemia (thal)