Do any have any rare hereditary autoimmune diseases in your family? (elaborate if yes)


Author Topic: Hereditary Disease  (Read 2319 times)


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Hereditary Disease
« on: November 06, 2012, 09:36:23 PM »
On my mothers side, spherocytosis a rare disease of the RBC (red blood cell), which is dominant/recessive causes the normally spherical RBC to malform becoming more oval in appearance. A structural weakness in  spectrin, ankyrin, Band 3, or Protein 4.2 cause the cell walls to become weaker, lowering the rate of oxygen turnover. Eventually the spleen which destroys old damaged RBCs starts to destroy the malformed RBCs at high rate which is called auto-hemolysis. Auto-hemolysis can kill people with spherocytosis and similar diseases if the spleen is not removed and immune system monitored closely. Bile build up in the gallbladder and anemia are prevalent symptoms of this hereditary disease.

For a brief overview check http://en.wikipedia.org/wiki/Spherocytosis.   

I have no idea if POIS and spherocytosis have any relation, which is why I am curious about your rare hereditary diseases as well, but if there is one I would guess it has to do with the malformed protein forming the cell wall of the RBCs. Does anyone know what active role if any protiens, spectrin, ankyrin, Band 3, or Protein 4.2 have in histamine release from a Mast Cell?
28 yo M- POIS for 16yrs (since age 12). Chronic POIS- always there

Tried desensitization for 1.5yrs & was unsuccessful (POIS worse at 1/1000)

 Exercising- (running/light weights/situps/yoga) Ice my perineum. Gluten-free. Supplements- limited success.Meds- Oxcarbazepine/Buspar (past-Depakote10yrs)