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

Iron supplementation after femoral head replacement for patients with normal iron stores

Hip Arthropathy in Genetic Hemochromatosis: Radiographic and Histologic

Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Thursday, September 6, 2012 10:23 am