Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of severe lead poisoning with haemolytic anemia, extensive polyneuropathy and arterial hypertension is reported in a patient for whom G-6-P-D deficiency and renal tubular acidosis were discovered. Both traits were present in his family. Incomplete regression of paralysis and persistant biological abnormalities after chelating treatment were demonstrative of heavy saturnine load even though the toxic exposure was brief. The role of the two deficiencies in the mechanism of intoxication is discussed: facilitation of haemolysis by enzymopathy and bone lead redistribution resulting from osteolysis probably due to the tubulopathy. The authors emphasize the fact that thorough and serial biological investigation is essential in the discovery of factors which may precipitate lead poisoning, as well as in the determination of follow-up criteria of efficient toxic epuration with sufficient delay. Typing of the enzyme has led to the identification of a new variant of glucose-6-phosphate dehydrogenase deficiency.
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PMID:[Generalized saturnine paralysis. Discovery of a double congenital disease: glucose-6-phosphate dehydrogenase deficiency (new variant) and distal tubular acidosis]. 93 Dec 43

Early administration of vitamin E to low birth weight (less than 1500 g) infants results in alleviation of the symptoms of retinopathy of prematurity and a lowered incidence of intraventricular hemorrhage. If vitamin E is given to children with cholestatic liver disease (orally or parenterally) before 3 years of age, neurological symptoms such as areflexia, ataxia, and sensory neuropathy are prevented or reversed. Restitution of neurological function is more limited in children ages 5-17 years even after prolonged therapy. Vitamin E is also useful in prevention of neuropathy and retinopathy associated with abetalipoproteinemia and cystic fibrosis. Blood levels of tocopherol are often low in subjects with hemolytic anemias. Administration of vitamin E to G-6-P-D-deficient subjects increased hemoglobin levels, and decreased the number of irreversibly sickled cells in sickle-cell anemia subjects. Most trials have indicated that administration of vitamin E for 6 months or more to subjects with intermittent claudication results in longer walking distance and improved blood flow. Vitamin E reduces platelet aggregation, platelet adhesion to collagen, and platelet thromboxane production. Prostacyclin production is generally enhanced. The significance of these effects to thrombotic diseases. Epidemiological studies have indicated that subjects with higher blood levels of vitamin E have lower risk of death from ischemic heart disease and cancer, a lower risk of breast cancer, and a lower incidence of infections.
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PMID:Clinical uses of vitamin E. 391 44

Facial scarification is a process of engraving marks on selected portions of the face at infanthood for various cultural purposes. It is a common cultural practice in Africa especially Nigeria. The induction is associated with fever and severe crying in infants. Usage of the same unsterile tools for the induction in different children and the unhygienic environment are possible means of contracting HIV infection. Occurence of G-6-P-D deficiency and malaria predipose to severe anaemia often requiring blood transfusion. Blood screening facilities are grossly lacking in most rural areas in developing countries. This report is on a 2-year-old male child who presented with facial marks, lacked G-6-P-D and died of HIV infection after a follow-up of 6 months. We suggest that HIV infection contracted from facial scarification in the presence of G-6-P-D deficiency caused the child's death.
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PMID:Death of a G-6-P-D deficient child with co-morbid HIV infection linked to scarification. 1720 25