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Subject: gout/anemia/hemosiderosis/vitamin E/retina detachment

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   Br J Haematol 44: 211-20 (1980)[80198135]

Congenital dyserythropoietic anaemia (CDA) with severe gout, rare Kell
phenotype and erythrocyte, granulocyte and platelet membrane reduplication: a
new variant of CDA type II.



    R. M. Lowenthal, K. A. Marsden, C. L. Dewar & G. R. Thompson



   A 43-year-old man with lifelong anaemia showed features which indicate
   him to have a previously undescribed variant of congenital
   dyserythropoietic anaemia (CDA), type II. The main clinical
   features--of which the first two are unique or very unusual in
   CDA--have been severe tophaceous gout, massive splenomegaly, gall
   stones mecessitating cholecystectomy and haemosiderosis affecting the
   liver and probably the heart. At age 41 he sustained a spontaneous
   retinal detachment. In the peripheral blood there were large numbers
   of nucleated red blood cells and marked macrocytosis; otherwise the
   picture was typical of CDA type II. The bone marrow contained many bi-
   and multi-nucleated erythrocyte precursors. There were increased
   levels of a number of red cell enzymes and a slightly raised level of
   HbF. Uncharacteristically, the red cells failed to lyse with acidified
   normal serum. The cells were strongly agglutinated by anti-i and were
   of the rare Kpb-negative phenotype. Plasma lipid analysis showed very
   low levels of cholesterol and vitamin E. Lipid peroxidation was
   markedly increased. Ultrastructural studies showed reduplication of
   the erythrocyte, granulocyte, and platelet cell membranes.

   MeSH Terms:
     * Adult
     * Anemia, Dyserythropoietic, Congenital/blood
     * Anemia, Dyserythropoietic, Congenital/complications
     * Anemia, Dyserythropoietic, Congenital/genetics
     * Anemia, Hemolytic, Congenital/blood
     * Blood Cell Count
     * Blood Groups*
     * Blood Platelets/ultrastructure
     * Case Report
     * Cell Membrane/ultrastructure
     * Erythrocyte Membrane/ultrastructure
     * Erythrocytes/metabolism
     * Erythrocytes/ultrastructure
     * Gout/complications
     * Granulocytes/ultrastructure
     * Human
     * Kell Blood-Group System*
     * Lipids/blood
     * Male
     * Microscopy, Electron



   Substances:
     * Blood Groups


     
Subject: gout/iron

   
   Med Hypotheses 1999 Nov;53(5):407-12
   
Effect of gradual accumulation of iron, molybdenum and sulfur, slow depletion
of zinc and copper, ethanol or fructose ingestion and phlebotomy in gout.

    Johnson S
    
   [Medline record in process]
   
   Gout affects mostly males over 40 years old and, occasionally,
   postmenopausal women. This pattern coincides with the pattern of iron
   accumulation. On the other hand, menstruating women are seldom
   afflicted by gout, because the monthly blood loss causes them to
   accumulate iron to a much lesser degree. Gout involves seven aspects:
   (1) uric acid overproduction from increased purines in the diet; (2)
   uric acid overproduction from ATP degradation; (3) uric acid
   overproduction from increased de novo synthesis of purines; (4) uric
   acid overproduction from increased DNA breakdown from cell damage; (5)
   decreased uric acid elimination, caused by molybdenum and sulfur
   binding to copper in the kidneys; (6) precipitation of sodium
   urate-iron crystals in the joints due to high ferritin and saturated
   transferrin and low CuZn-SOD and Cu-thionein in the joint; (7)
   development of inflammation, triggered by tyrosine bonding to the
   sodium-urate-iron crystals and being transformed by tyrosine kinase.
   Alcohol and iron greatly affect most of these aspects. Therefore,
   phlebotomy is suggested as therapy for gout patients, in order to
   eliminate the accumulated Fe. Furthermore, yearly blood donation is
   recommended for males with a family history of gout, so as to prevent
   Fe accumulation and avoid gout.
   
   PMID: 10616042, UI: 20081788
     
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