Hb Geldrop St. Anna [β94(FG1)Asp→Tyr]: a New Hemoglobin Variant Observed in a Diabetic Patient

Cornelis L. Harteveld The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Marc H. M. Thelen Department of Clinical Chemistry, St. Anna Hospital, Geldrop, The Netherlands

Johannes J. A. Rutten Huisartspraktijk Rutten JJA, Nuenen, The Netherlands

Jolanda Leuverman Department of Clinical Chemistry, St. Anna Hospital, Geldrop, The Netherlands

Nicole Akkermans The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Peter van Delft The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Sandra Arkesteijn The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

Piero C. Giordano The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsCorrespondence[email protected]

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Abstract

An abnormal hemoglobin (Hb) fraction was observed during a high performance liquid chromatographic (HPLC) Hb A_1c control for diabetes mellitus in a 56-year-old north European woman. Family analyses revealed the abnormal fraction in three of her five siblings and in her son. Elevated Hb and packed cell volume (PCV) values and red blood cell (RBC) counts were present in all carriers. No histories of anemia, hemolytic or circulatory episodes were reported. The abnormal Hb fraction estimated at 40%, migrated just below Hb F on alkaline electrophoresis and overlapped the Hb A₂ peak on cation exchange HPLC. Direct sequencing of the β-globin genes revealed a new GAC→TAC transversion in heterozygous form at codon 94 of the β-globin gene. Based on the hematological/biochemical data and the decreased P₅₀ value, we conclude that the new variant is a stable Hb associated with a slightly elevated oxygen affinity.

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Hb Geldrop St. Anna [β94(FG1)Asp→Tyr]: a New Hemoglobin Variant Observed in a Diabetic Patient

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Hb Geldrop St. Anna [β94(FG1)Asp→Tyr]: a New Hemoglobin Variant Observed in a Diabetic Patient

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