Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity.

Authors :: Karow A
Eekels JJ
Zurbriggen K
Schmid M
Schmugge M
Speer O
Source :: Hemoglobin [Hemoglobin] 2015; Vol. 39 (6), pp. 432-4. Date of Electronic Publication: 2015 Aug 06.
Publication Year :: 2015
Abstract: A clinically asymptomatic 12-year-old girl showed microcytosis in routine examination. Cation exchange high performance liquid chromatography (HPLC), revealed two additional peaks eluting after Hb A and DNA sequencing uncovered a novel heterozygous mutation at codon 64 of the α1-globin gene. The hemoglobin (Hb) variant was annotated as Hb G-Waimanalo [A1]. Further analyses demonstrated a decreased oxygen affinity Hb compared to the normal Hb configuration.

Full Text Access

Tools