[Familial polycythemia caused by high oxygen affinity hemoglobin. 2nd world case of hemoglobin J Providence].
The cas observed in Auvergne and reported here raises the aetiological problem of polycythaemias. Young subjects with polycythaemia should be investigated for congenital anomaly of oxygen transport by measuring P50 and 2,3-DPG, which provides information on the oxygen-carrying capacity of haemoglobin. When confronted with familial polycythaemia due to high oxygen affinity haemoglobin, clinicians must know that a cause-effect relationship is not always demonstrable since other factors, such as tobacco-smoking in this particular case, may intervene.
D000328:Adult; D005602:France; D006448:Hemoglobin J / Q000235:genetics / Q000378:metabolism*; D006455:Hemoglobins, Abnormal / Q000378:metabolism*; D006801:Humans; D008297:Male; D010100:Oxygen / Q000097:blood*; D011086:Polycythemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D012907:Smoking; D044465:White People
D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; C049101:hemoglobin J Providence; D010100:Oxygen
Polyglobulie familiale par hémoglobine hyperaffine pour l'oxygène. Deuxième cas mondial d'hémoglobine J Providence.