Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A2-MUMC [δ13(A10)Ala → Asp] Academic Article uri icon

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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, Lynda
  • Patterson, Margie
  • Eng, Barry
  • McFarlane, Andrew
  • Waye, John

publication date

  • January 2005