HB Washtenaw [βT11(A8)VAL-PHE]: An Electrophoretically Silent, Unstable, Low Oxygen Affinity Variant Associated with Anemia and Chronic Cyanosis

K. Krishnan Divisions of Hematology-Oncology, University of Michigan Medical, Ann Arbor, MI, 48109, USA

F. Martinez Pulmonary and Critical Care Medicine Department of Internal Medicine, University of Michigan Medical, Ann Arbor, MI, 48109, USA

R. T. Wille Pulmonary and Critical Care Medicine Department of Internal Medicine, University of Michigan Medical, Ann Arbor, MI, 48109, USA

R. T. Jones Department of Biochemistry and Molecular Biology, School of Medicine, Oregon Health Sciences University, Portland, 97201-3098, USA

D. T. Shin Department of Biochemistry and Molecular Biology, School of Medicine, Oregon Health Sciences University, Portland, 97201-3098, USA

C. Head Department of Biochemistry and Molecular Biology, School of Medicine, Oregon Health Sciences University, Portland, 97201-3098, USA

V. F. Fairbanks Department of Medicine, Hematology Division, and Department of Pathology and Laboratory Medicine Mayo Clinic, Rochester, MN, 55905, USA

L. Dabich Divisions of Hematology-Oncology, University of Michigan Medical, Ann Arbor, MI, 48109, USA

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Abstract

Hb Washtenaw [β11(A8)Val-Phe] is a new, low oxygen affinity variant with a previously undescribed substitution, identified in seven members over three generations of a Hungarian-American family. The hemoglobin is mildly unstable and the family members studied are clinically asymptomatic but mildly cyanotic, and some exhibit mild anemia. The index case had severe pulmonary hypertension and some of the family members had increased pulmonary vascular resistance on echocardiography. An association between the inheritance of this abnormal hemoglobin and the pathogenesis of primary pulmonary hypertension is suggested but the mechanism is unclear.

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HB Washtenaw [βT11(A8)VAL-PHE]: An Electrophoretically Silent, Unstable, Low Oxygen Affinity Variant Associated with Anemia and Chronic Cyanosis

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HB Washtenaw [βT11(A8)VAL-PHE]: An Electrophoretically Silent, Unstable, Low Oxygen Affinity Variant Associated with Anemia and Chronic Cyanosis

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