Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]

J. Lafferty Regional Hemoglobinopathy Laboratory, St. Joseph's Hospital Hamilton, Ontario, L8N 4A6, Canada

M. Ali Regional Hemoglobinopathy Laboratory, St. Joseph's Hospital Hamilton, Ontario, L8N 4A6, Canada; Department of Pathology, McMaster University School of Medicine, Ontario, L4G 1M5, Canada

K. Matthew Aurora Medical Centre, Aurora, Ontario, L4G 1M5, Canada

B. Eng Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, L8N 3Z5, Canada

M. Patterson Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, L8N 3Z5, Canada

J. S. Waye Department of Pathology, McMaster University School of Medicine, Ontario, L4G 1M5, Canada; Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, L8N 3Z5, Canada

Abstract

A 73-year-old female of Dutch descent was referred for investigation of a high oxygen affinity hemoglobin variant. The β-globin gene was amplified using the polymerase chain reaction. Direct nucleotide sequencing of the polymerase chain reaction amplified DNA revealed that she is heterozygous for a novel p-globin gene mutation at codon 139, AAT→TAT. The resulting hemoglobin variant has been designated Hb Aurora [β139 (H17) Asn→Tyr].

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Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]

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Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]

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