Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity.
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.
a Division of Haematology , University Children's Hospital , Zürich , Switzerland.
Axel
A
Karow
a Division of Haematology , University Children's Hospital , Zürich , Switzerland.
Julia J M
JJ
Eekels
a Division of Haematology , University Children's Hospital , Zürich , Switzerland.
Karin
K
Zurbriggen
a Division of Haematology , University Children's Hospital , Zürich , Switzerland.
Marlis
M
Schmid
a Division of Haematology , University Children's Hospital , Zürich , Switzerland.
Markus
M
Schmugge
a Division of Haematology , University Children's Hospital , Zürich , Switzerland.
Oliver
O
Speer
D000483:Alleles; D019943:Amino Acid Substitution; D000747:Anemia, Hypochromic / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003062:Codon; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005260:Female; D006442:Glycated Hemoglobin / Q000235:genetics* / Q000378:metabolism*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010100:Oxygen / Q000378:metabolism*; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics / Q000378:metabolism
D003062:Codon; D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; D010100:Oxygen; D055542:alpha-Globins; C033430:hemoglobin G Waimanalo
PolyCAT A high performance liquid chromatography (HPLC); hemoglobin (Hb); microcytosis; α-Globin variant