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- W2078763352 abstract "A Hungarian-American kindred with familial primary pulmonary hypertension (PPH) and a new, low-oxygen affinity β-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 β-chain variant hemoglobin, Hb Warsaw, and PPH. It was suggested that the putative gene for familial PPH may be located near the β-globin gene on chromosome 11. The association of PPH and the β-chain variant hemoglobin in this kindred adds further support to this hypothesis. A Hungarian-American kindred with familial primary pulmonary hypertension (PPH) and a new, low-oxygen affinity β-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 β-chain variant hemoglobin, Hb Warsaw, and PPH. It was suggested that the putative gene for familial PPH may be located near the β-globin gene on chromosome 11. The association of PPH and the β-chain variant hemoglobin in this kindred adds further support to this hypothesis." @default.
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- W2078763352 title "Familial Association of Primary Pulmonary Hypertension and a New Low-Oxygen Affinity β-Chain Hemoglobinopathy, Hb Washtenaw" @default.
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- W2078763352 doi "https://doi.org/10.1378/chest.109.3.848" @default.
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