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)

Lipid peroxidation, an autocatalytic free radical process, is increased in a wide variety of conditions including various hemolytic anemias and hemoglobin disorders. Increased erythrocyte lipid peroxidation occurs in the presence of iron species and some heme moieties. In this study, greatly reduced concentrations of malondialdehyde (MDA), an indicator of lipid peroxidation, were observed in stored blood anticoagulated with citrate, phosphate, dextrose, and adenine (CPDA-1) upon the addition of deferoxamine mesylate (DM), diethylenetriaminepentaacetic acid (DTPA), and ethylenediaminetetraacetic acid (EDTA) (P less than 0.001). Human transferrin has essentially no effect on lipid peroxidation. Conversely, penicillamine and butylated hydroxytoluene significantly increased lipoperoxide production. Although bathophenanthroline disulfonic acid (BPD) appeared to be very effective in reducing lipid peroxidation, its complex chromatographic patterns which were due to the presence of multiple thiobarbituric acid reactive substances, were difficult to fully evaluate. The addition of appropriate metal chelators to stored blood may be effective in increasing the viability and longevity of transfused red cells.
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PMID:The effect of metal chelators on lipid peroxidation in stored erythrocytes. 150 87

A 10-year-old Afro-American female with SS disease presented with a history of painless loss of vision (RE) of 26 hours duration. Sequential fluorescein angiography revealed bilateral parafoveal occlusions and evidence of prior vaso-occlusions in each eye. Initial hydration therapy with dextrose 5% and 1/4 normal saline was followed within eight hours by transfusion with two units of packed red blood cells. Patency was restored to the occluded arterioles with return of normal acuity in LE, though the vision remains at hand motions in the RE. Sudden loss of central acuity in sickle hemoglobinopathies may result from vaso-occlusion in terminal arterioles near the foveal avascular zone. Therefore a reduced number of permanently irreversibly sickled red blood cells may prevent these macular infarcts.
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PMID:Bilateral macular infaction in SS disease. 717 26

Regiospecific synthesis of 12 novel n-butyric and phenylalkylcarboxylic monoesters of mannose and xylitol was achieved. The strategy adopted, avoided a tedious intramolecular transesterification step, previously described for the synthesis of analogous compounds and permitted the facile synthesis of a new generation of stable derivatives. The general tolerance of the drugs has been assayed after intravenous administration of a bolus dose into mice. Monobutyric esters showed a low toxicity commensurate with the requirements for future development. A relationship was observed between chain length and toxicity. In contrast, phenylacetic, 3-phenylpropionic and 4-phenylbutyric esters were found to be toxic. Phenylbutyric esters induced marked and specific neuromuscular damage. Preliminary biological investigations of the new series of monobutyric esters showed them to retain the benificial biological properties of butyric acid whilst remaining relatively non toxic. They induced an inhibition of in vitro proliferation of 10 human cases of de novo acute myeloid leukemia (AML) primary cultures and AML established cell lines. AML blasts growth appeared to be blocked and cell differentiation was established. Transcription and expression of maturation markers and finally apoptosis were observed. Moreover, human gamma-chain hemoglobin (HbF) synthesis in erythroleukemia cells was stimulated by monobutyric esters. Mannose and xylitol butyric derivatives would appear to have exciting potential in treatment of beta-Hemoglobinopathies, sickle cell anemia and cancer.
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PMID:Regioselective synthesis and biological profiling of butyric and phenylalkylcarboxylic esters derivated from D-mannose and xylitol: influence of alkyl chain length on acute toxicity. 984 86