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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A general consideration of the pathogenesis of the various metabolic diseases which produce mental deficiency suggests that perturbation of the one carbon (folate) cycle may be important. Secondly, a review of diseases having some symptoms in common with trisomy 21 suggests the evidence of : a collagen disturbance (hypothyroidism and iminodipeptidurial) ; an oxygen disturbance (hypothyroidism and hemoglobinopathies) ; a cholinergic distrubance (Alzheimer's disease) ; a one-carbon-cycle disturbance (Lesch-Nyhan's disease). Thirdly, the peculiar pathology of trisomy 21 allows to find also a cholinergic disturbance and a disturbance close to the 10 formyl-tetrahydrololate entry of the folate cycle. Finally, an analysis of the possible effect of the excess of superoxide dismutase A and of the increase of glutathion peroxidase leads to the suspicion that a difficulty exists of dioxygenations and of non aromatic hydroxilations with a relative retardation of some FAD requiring reactions. A simplified scheme shows that these metabolic deviations could provoke a disturbance of the collagen and of synthesis of chemical mediators, in accordance with the indications furnished by the compared pathogenesis of the various affections studied. These heuristic reflexions open the way to further investigations.
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PMID:[Biochemical investigations and trisomy 21 (author's transl)]. 22 17

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

In 1954 a then 31-yr-old male was found to have erythrocytosis. Over the ensuing decade he received 72 mCi32P. In 1964 his daughters were found to have erythrocytosis. Further investigation led to the discovery of hemoglobin Yakima, a variant with high oxygen affinity. He received no further therapy and was well until 1975, when he developed the preleukemic syndrome. Within 12 mo. he developed acute nonlymphocytic leukemia accompanied by fetal erythropoiesis. Because the inital discovery of this type of hemoglobinopathy came 27 yr after the introduction of 32P for use in the treatment of polycythemia vera, and because there are now known to be more than 39 different high-oxygen-affinity hemoglobins, we anticipate that more patients such as ours have been exposed to 32P. The exposed population should be cosely followed, since this will likely permit assessment of the risk of 32P-induced leukemia in a nonneoplastic condition.
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PMID:32P and acute leukemia: development of leukemia in a patient with hemoglobin Yakima. 66 62

The concept of optimum hematocrit was used to compare the rheology of bloods from patients with various hemoglobin S and hemoglobin C hemoglobinopathies. The technique involved the utilization of cone and plate viscometric data to predict average flow rates under representative physiological-fluid mechanical conditions. The shape of the curve relating optimum hematocrit to oxygen tension, rather than the absolute magnitude of the optimum hematocrit at fixed oxygen tension, is shown to give an indication of clinical severity of the disease.
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PMID:Rheological evaluation of hemoglobin S and hemoglobin C hemoglobinopathies. 83 6

A patient with hemoglobin-H (Hb-H) disease developed an acute hemolytic crisis after treatment with trimethoprim and sulfamethoxazole. Despite her poor clinical condition and profound anemia (Hb, 2.7 g/dL), pulse oximetry continued to demonstrate a high O2 saturation percentage. Manipulation of Beer's law shows that anemia theoretically should not affect pulse oximetry values. The literature describes the effects of dyshemoglobinopathies such as carboxyhemoglobinemia and methemoglobinemia on O2 saturation percentage measured by pulse oximetry, but the effect of genetic hemoglobinopathies on pulse oximetry values is largely unreported. Because most hemoglobinopathies do not significantly change the protein-heme electronic interaction, the values of O2 saturation percentage determined through pulse oximetry should remain clinically valid. Hb-H is an exception to this generalization; as in patients with carboxyhemoglobinemia, pulse oximetry measurements showing high O2 saturation percentage do not correspond to high levels of oxygen available for delivery to tissues.
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PMID:Evaluation of pulse oximetry in anemia from hemoglobin-H disease. 157 Sep 17

Lipid peroxidation is initiated by the production of oxygen-free radicals; it is increased in a wide variety of diseases, including various hemolytic anemias, and in hemoglobin disorders. Increased lipid peroxidation occurs in red cells in the presence of reactive iron species and some heme moieties. In this study, greatly reduced concentrations of malondialdehyde, an indicator of lipid peroxidation, were observed in stored blood upon the addition of both deferoxamine mesylate and diethylenetriaminepentaacetic acid (p less than 0.001). The antioxidant glutathione was much less effective (p less than 0.01 or less than 0.05, depending on incubation time). On the other hand, the addition of dimercaptosuccinic acid and ascorbic acid both significantly increased malondialdehyde production over controls (p less than 0.001 and p less than 0.05, respectively). Ascorbic acid, in the presence of deferoxamine mesylate, added no red cell protection over that of deferoxamine mesylate alone. The addition of metal chelators and, possibly, certain antioxidants to stored blood may be effective in increasing the viability and longevity of transfused red cells.
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PMID:Lipid peroxidation in stored red cells. 158 42

A kindred with a familial hemoglobinopathy and familial primary pulmonary hypertension with autosomal dominant transmission has been identified. Affected family members were obvious from their cyanosis due to a reduced affinity for oxygen by the hemoglobin variant. The mother and one child had clinical pulmonary hypertension, whereas two siblings had cyanosis and preclinical pulmonary vascular disease as evidenced by abnormal perfusion lung scans and elevated levels of fibrinopeptide A in the face of normal pulmonary hemodynamics. In one, pulmonary hypertension could be induced with exercise. The studies on this family support the hypothesis that primary pulmonary hypertension may be initiated by abnormalities of the pulmonary vascular bed that predispose to in situ thrombosis. The possible common genetic transmission of the two diseases offers the speculation that the gene that confers predisposition to pulmonary hypertension may be located near the gene responsible for beta globulin.
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PMID:Familial pulmonary hypertension in association with an abnormal hemoglobin. Insights into the pathogenesis of primary pulmonary hypertension. 170 27

Hb Regina was identified in a 58-year-old German male and 2 of his 3 children. All affected subjects presented moderate erythrocytosis and the whole blood exhibited increased oxygen affinity (P50:17.5 mm Hg). This hemoglobinopathy was undetectable with the conventional electrophoretic methods. It was, however, separated and quantified by cation-exchange and reverse-phase high-performance liquid chromatography. Hb Regina accounted for 30-35% of the total Hb. No significant clinical symptoms were found to be related to this hemoglobinopathy. This is the first known instance in Germany, and so far the second case reported.
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PMID:A case of the Hb Regina (beta 96 (FG3) Leu----Val) in a German male associated with high oxygen affinity and erythrocytosis. 185 85

Two methods for the routine determination of blood hemoglobin oxygen affinity are described. Both methods use whole blood and do not require special equipment, tonometry or special gas mixtures. The first method consists of a one-point determination of p50, and requires only 200 microL to 400 microL of whole blood, therefore making it suitable for the pediatric population. The second method uses multiple points, thereby establishing both the shape and position of the hemoglobin oxygen equilibrium curve between 10 and 99% oxygen saturation. Interpretation of p50 is discussed in relation to evaluation of patients with hemoglobinopathies and as a parameter in estimating availability of oxygen to the tissues.
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PMID:Guidelines for routine measurement of blood hemoglobin oxygen affinity. International Federation of Clinical Chemistry, Scientific Division, Committee on pH, Blood Gases and Electrolytes. 208 16

Sogn hemoglobinopathy was identified in a young American woman and in a young American man of apparently unrelated families of Norwegian ancestry. Both persons were asymptomatic and without clinical or hematologic manifestations. Hemoglobin Sogn, beta(A11)14 Leu----Arg, is an unstable hemoglobin that may easily be mistaken for hemoglobin S, G, or D by alkaline hemoglobin electrophoresis. These are the first known instances of hemoglobin Sogn outside of Norway. Oxygen affinity is normal. Sogn hemoglobinopathy is an incidental finding that has no adverse implication for the health of heterozygotes.
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PMID:Two families with hemoglobin Sogn, beta(A11)14 Leu----Arg, in Minnesota and Indiana: hematologic, functional, and biosynthetic features. 219 50


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