Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The automatic oxygenation technique of Imai et al (Biochimica Biophysica Acta, 200:189--196, 1970) was slightly modified and applied to the study of oxygen equilibrium curves of dilute, red-cell suspensions from normal subjects and individuals with hemoglobinopathies, enzymopathies, and other hematologic disorders. The p50 values of non-smoking, normal adults were 25.9 +/- 0.6 mm Hg at pH 7.4 and 37 degrees C, and corresponded to the values for whole blood reported in the literature. The oxygen equilibrium curves of suspensions from subjects with enzymopathies revealed shifts in position which are thought to be due to alterations in the concentration of 2,3-DPG of the red cells. Abnormalities in shape of the equilibrium curves were observed only for the hemoglobinopathic red cells, and could best be illustrated by the abnormally low Hill's exponent (n*). Analyses of the n* values of 34 patients with various red-cell disorders of unknown causes led to the identification of ten cases showing low values. In five of the ten patients, the presence of an abnormal hemoglobin was confirmed using column chromatography on Amberlite CG--50. These results point to the usefulness of the Hill Plot analysis of red-cell oxygen dissociation curves in functional screening for clinically important hemoglobinopathies.
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PMID:Application of an automatic oxygenation technique to analysis of oxygen equilibrium curves for hemoglobinopathic red cells and functional screening of clinically important hemoglobinopathies. 51 83

Dissociation curves for oxygen of dilute samples of human adult Hb-A were evaluated on this occasion, by using the Oximeter-539 WTW with its sensor, and a suitable spectrophotometer. At this purpose, Hb samples were desaturated in oxygen upon given experimental conditions, by bubbling pure nitrogen in them, and their re-oxigenation in air was followed, step by step, by multiple oximetries. In addition, all the spectrophotometric measurements of the saturation of Hb-O2%, corresponding to each individual oximetry, were carried out parallely but separately. Dilution of Hb-A was maintained at 0.1 mM in heme. The p50 at pH 7.3 was 4.435 +/- 0.299 Torr, with the n-value of 2.7 +/- 0.2; Bohr effect was -0.55 +/- 0.08, within a pH range between 6.8, 7.3 and 7.8, whereas chloride and DPG effects at pH 7.3 (the most useful value) were 0.42 +/- 0.44 and 0.453 +/- 0.0187 respectively. In conclusion, these results are similar to those obtained with automated procedures, upon comparable experimental conditions, but do not require expensive and sophisticated instruments. Such a technique could be very useful in the hemoglobinopathies, which are common in Italy, and it could be easily adapted to perform comparative studies on animal hemoglobins not far from human species.
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PMID:Use of the Oximeter-539 WTW, equipped with a sensor Trioxmatic-300, for the functional analysis of dilute solutions of human Hb-A. 923 Jun 28

Priapism is a painful medical condition in which the erect penis does not return to its flaccid state, despite the absence of both physical and psychological stimulation, within 4 h. Priapism is considered a medical emergency, which should receive proper treatment by a qualified medical practitioner. Treatment initially involves conservative measures, such as corporeal aspiration and irrigation with saline or dilute phenylephrine. If this fails, embolization or surgical shunting may be required. Priapism is more commonly associated with sickle cell hemoglobinopathy. However, hyperviscosity resulting from leukemia is a rare cause of priapism. We report a case of a 19-year-old man with an 18-h history of priapism secondary to undiagnosed chronic myeloid leukemia. We discuss the method of leukapheresis (mechanical white cell depletion) to reduce viscosity.
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PMID:Chronic myeloid leukemia presented with priapism: Effective management with prompt leukapheresis. 2628 27