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  1. Hemochromatosis is a condition in which the amount of total body iron is increased; the excess iron is deposited in and causes damage to several organs including the liver. 
  2. Aetiology
    1. Autosomal recessive, 
    2. Gene is located on chromosome 6. 
    3. Approximately 90% of patient have a single-point mutation at position C282Y & H63D in a protein (HFE). 
  3. Clinical features
    1. Features of hepatic cirrhosis (especially hepatomegaly), 
    2. Diabetes mellitus
    3. Heart = CHF (M/C feature), Arrhythmias
    4. Leaden-grey skin pigmentation due to excess melanin & iron occurs, especially in exposed parts, (‘bronzed diabetes’). 
    5. Impotence, loss of libido, testicular atrophy. These changes are primarily the result of decreased production of gonadotropins due to impairment of hypothalamic-pituitary function by iron deposition. (Ref. Hari. 18th ed., Pg- 3165)
    6. Arthritis with chondrocalcinosis secondary to calcium pyrophosphate deposition. 
    7. Joints of hands especially 2nd & 3rd MCP joint are 1st to be involved.
Important Points
  1. Affected patients are at increased risk of infection with Vibrio vulnificus, Listeria monocytogenes, Yersinia enterocolitica, and other siderophilin organisms.
  2. The risk of porphyria cutanea tarda is increased.
  3. Hepatomegaly(95%), skin pigmentation 90%), DM 65%, arthropathy 25 – 50%, Cardiac disease 15%, Hypogonadism.
  4. M/C death is treated patient hepatoma
  5. M/C death is untreated patient CHF


Note: Increase Transferrin saturation (TS) > 45% is earliest phenotypic marker) (Ref. Hari. 18th ed., page - 3165) (LQ 2012)


Investigations (Ref. Har, 18th ed., Pg - 3165)
  1. The serum ferritin is greatly increased;
  2. Plasma iron increased,
  3. High transferrin saturation
  4. The diagnosis is confirmed by liver biopsy (LQ 2012). Which shows heavy iron deposition and hepatic fibrosis which may have progressed to cirrhosis.
  5. The iron content of the liver should be measured directly.
  6. MRI of the liver.
  1. Main treatment consists of weekly venesection of 500 ml blood (250 mg iron) (AIPG 10) until the serum iron is normal.
  2. Venesection is continued as required to keep the serum ferritin normal.
  3. The chelating agent deferoxamine (I/V or S/C) is indicated for patients with hemochromatosis and anemia or in those with secondary iron overload due to thalassemia who cannot tolerate phlebotomies.
  4. A oral chelator, Deferasirox is new drug.

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