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Iron Overload / Hemochromatosis

Discussion

- rare disorder manifested by tissue accumulation of iron affecting liver, pancreas, heart, and gonads;
- approx 1.7% of men & 0.6 percent of women are homozygotes;
- hereditary disorder of iron metabolism
- diabetes is common (bronze diabetes)
- 20% develop joint involvement;
- most pts are male between ages of 40-60 yrs;
- it is associated w/ heavy wine intake;
- produces arthritis and chrondrocalcinosis in 50% of pts;

- Lab Studies: 
- measuring the transferrin saturation appears to be most sensitive method of detecting the homozygous genotype;
- threshold normal value of transferrin saturation during fasting be set at 60 % for men and 50 % for women;
- serum ferritin concentration correlates well w/ level of hepatic iron stores and has been used as marker in many screening studies;
    - Iron:
- males 65-175 ug/dL; Females 50-170 ug/dL
            - increased:
                   - hemochromatosis, hemosiderosis caused by excessive iron intake, excess destruction or decreased production of erythrocytes, liver necrosis;
          - decreased:
- anemia of infection and chronic dz, cirrhosis, nephrosis,
    - Iron Binding Capacity (total) TIBC:
- 250-450 ug/dL;
- normal Iron/TIBC ratio is 20-50%; <15% is almost diagnostic of Iron defficiency Anemia;
- increased: acute and chronic blood loss, iron deficiency anemia, hepatitis, OC;
- decreased: anemia of infection and chronic dz, cirrhosis, nephrosis, hemochromatosis;
    - Ferritin:
- male 15-200 ng/mL; Female: 12-150 ng/mL;
- decreased: Iron Defficiency (earliest & most sensitive test before red cells show any morphological change);
    - Transferrin:
- 220-400 mg/dL
- increased: iron deficiency;
- decreased: poor nutritional status, chronic and acute inflammatory states, chronic liver dz;

- Treatment: phlebotomy can prevent the development of symptoms

References