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Wednesday 12 October 2011

Hemochromatosis

- autosomal recessive
- commonest mutation is C282Y, in chromosome 6, affecting HFE gene
- most common single gene disorder in caucasians (carrier frequency 1 in 10)
- serum iron is elevated (>300mg/dL)
- serum transferrin saturation > 50% (most sensitive biochemical marker of iron overload)
- serum ferritin increased
- urinary iron excretion markedly increased (>2mg/24hour) by chelating drug desferioxamine
- diagnosis confirmed by DNA analysis
- presents with skin pigmentation (iron deposition stimulates increase melanin production), hepatic dysfunction, diabetes (bronze diabetes), hypogonadism, arthropathy (pseudogout), restrictive cardiomyopathy
- treatment: regular venesection (monitor by serum ferritin) - cardiomyopathy may improve with venesection

1 comment:

Unknown said...

I had my TL a little more than a year ago when my third child was born via c-section. I was not told ANYTHING about the possible side effects of having this procedure. Since then I have experienced heavy bleeding lasting sometimes 3 weeks out of the month, weight gain, severe mood swings. Severe cramping, changes to my libido, severe depression accompanied by suicidal thoughts, headaches, migraines, many new symptoms & older issues are now exacerbated. The father of two of my children doesn't want me anymore. I've become too much of a pain in the ass I guess. We don't talk. We don't sleep in the same bed. I think he might really think I am crazy... & maybe I am. I feel crazy a lot of the time.
I'm unpredictable. I feel so angry about the whole thing & now what was once a mild fear of doctors has exploded into full on white coat syndrome that causes me to have a panic attack/hypertensive emergency (severe increase in blood pressure) whenever I have to deal with them. I'm not sure what to do... I fear the next time I have to see a doctor I'll have a stroke or a heart attack from the stress & anxiety of it... what do I do? I take my time and keep searching on internet looking for natural healing that how I came across Dr Itua herbal center website and I was so excited when Dr Itua told me to calm down that he will help me with his natural remedy I put my hope on him so I purchase his herbal medicines which was shipped to my address I used it as prescribed guess what? I'm totally healed my cramp pain is gone completely I also used his Anti Bacteria herbal medicines it's works for me very well I want anyone with health problem to contact Dr Itua herbal center for any kind diseases remedies such as Parkinson, Herpes, ALS, MS, Diabetes, Hepatitis, Hiv/Aids,Cancers, Men & Women Infertility, I got his email address  drituaherbalcenter@gmail.com he has any kind of herbal remedies for women & men also for our babes. I really miss my Hunni...he's a fantastic father & a good man. He doesn't deserve this. I feel like an empty shell of who I used to be...www.drituaherbalcenter.com