Compound Heterozygosity for β⁺-Thalassemia [-31 (A→G)] and a New Variant with Low Oxygen Affinity, Hb Sagami [β139(H17)Asn→Thr]

A. Miyazaki Department of Clinical Pathology, Osaka Medical College Takatsuki, Osaka, 569-8686, Japan

T. Nakanishi Department of Clinical Pathology, Osaka Medical College Takatsuki, Osaka, 569-8686, Japan

M. Kishikawa Department of Clinical Pathology, Osaka Medical College Takatsuki, Osaka, 569-8686, Japan

T. Nakagawa Department of Clinical Pathology, Osaka Medical College Takatsuki, Osaka, 569-8686, Japan

A. Shimizu Department of Clinical Pathology, Osaka Medical College Takatsuki, Osaka, 569-8686, JapanCorrespondence[email protected]

A. H. Mohammed Mawjood Department of Physiology, Osaka University Medical School, Suita, Osaka, 565-0871, Japan

K. Imai Department of Physiology, Osaka University Medical School, Suita, Osaka, 565-0871, Japan

Y. Aoki Laboratory for Clinical Investigation, Kanagawa Health Association Yokohama, Kanagawa, 231-0021, Japan

M. Kikuchi Department of Comprehensive Health Check, Kanagawa Health Association Yokohama, Kanagawa, 231-0021, Japan

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Abstract

A new hemoglobin (Hb) variant, Hb Sagami [β139(H 17)Asn→Thr] was accidentally found through the assay of Hb A_1c by high performance liquid chromatography (HPLC) in a screening test for diabetes mellitus (1). The amino acid substitution was determined by electrospray ionization mass spectrometry (ESI/MS) and confirmed by an automatic protein sequencer (1). The content of the abnormal β chain was about twice that of normal β chain, which was estimated by ESI/MS with intact globin mixture, and by high-resolution ion exchange column chromatography (PolyCAT A; Poly LC, Columbia, MD, USA) with Hb.

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Compound Heterozygosity for β⁺-Thalassemia [-31 (A→G)] and a New Variant with Low Oxygen Affinity, Hb Sagami [β139(H17)Asn→Thr]

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Compound Heterozygosity for β+-Thalassemia [-31 (A→G)] and a New Variant with Low Oxygen Affinity, Hb Sagami [β139(H17)Asn→Thr]

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Compound Heterozygosity for β⁺-Thalassemia [-31 (A→G)] and a New Variant with Low Oxygen Affinity, Hb Sagami [β139(H17)Asn→Thr]