title: Familial association of primary pulmonary hypertension and a new low-oxygen affinity beta-chain hemoglobinopathy, Hb Washtenaw.
abstract: A Hungarian-American kindred with familial primary pulmonary hypertension (PPH) and a new, low-oxygen affinity beta-chain variant hemoglobin, Hb Washtenaw, is described. The index case presented with severe PPH and was found to have the abnormal hemoglobin. Two siblings with the abnormal hemoglobin also demonstrated increased pulmonary artery pressures on exercise echocardiography suggestive of early PPH. The occurrence of PPH and the abnormal hemoglobin could be due to genetic or biochemical factors or simply coincidental. A previous study had described a possible association of an abnormal beta-chain variant hemoglobin, Hb Warsaw, and PPH. It was suggested that the putative gene for familial PPH may be located near the beta-globin gene on chromosome 11. The association of PPH and the beta-chain variant hemoglobin in this kindred adds further support to this hypothesis.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, USA.
authors.forename: R T
authors.initials: RT
authors.lastname: Wille
authors.forename: K
authors.initials: K
authors.lastname: Krishnan
authors.forename: K A
authors.initials: KA
authors.lastname: Cooney
authors.forename: D S
authors.initials: DS
authors.lastname: Bach
authors.forename: F
authors.initials: F
authors.lastname: Martinez
mesh_terms: D001483:Base Sequence; D005260:Female; D006453:Hemoglobinopathies / Q000150:complications*; D006455:Hemoglobins, Abnormal; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications* / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D006455:Hemoglobins, Abnormal; C091965:hemoglobin Washtenaw