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by wwiesel
Last updated 7 years ago

Health & Fitness

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Effects of hemochromatosis-There are 4 different types Most common found in adults ages 40-60 (less common in women untill after menopause)Symptoms:- Early: weakness, joint pain, belly pain, lethargy, weight loss, fatigue-More developed: impotence, loss of hair, shortness of breathLate: Organ damage, especially liver, heart, and pancreasDiabetes mellitus, heart failure, liver cirrhosis, darkening of skin, premature death- It is one of the most common genetic disorders in the U.S. It is more prevelant in people of Northern European descent.- About 1/10 people is thought to be a carrier in U.S., 0.5% homozygous in North America, and up to 24% heterozygous in Ireland- Mutation likely started in one person 20-70 generations ago. It might have been advantageous to store iron if it was scarce in the environment, thus the allele has remained in the population through initial selection.

What is it?Hemochromatosis occurs when your body absorbs more iron than it can store or use the excess iron gets stored and accumulates in body tissues. Normally people absorb 10% of iron consumed, yet people with Hemochromatosis absorb up to 30%.

Biological causes:-It is inheirited in an autosomal recessive manner-Mutation in gene HFE which codes for hemochromatosis protein -This protein regulates absorption of iron in the body and interacts with other iron-regulating substances Moderates ferritin as well?- Located on chromosome 6 (6p21.3)

Diagnosis:-Testing can be done to detect HFE mutation-Screening can be done via blood tests: iron saturation index and iron binding capacity test-Liver biopsy for confirmation of iron deposits-CT scanning/ultrasound for liver damage


Treatment:1. Theraputic Pheblotomy: drawing blood on a regular basis to create mild anemia (a pint a week)2. Take medicine: Chelating agents (pill or injection to remove excess iron)3. Change diet: avoid alcohol, iron-rich foods, vitamin C Increase Tea and calcium consumption4. Surgery: Heart or liver transplant

Comparison of hemosiderin stain from normal liver with those affected with hemochromatosis. Note increased deposition


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