HEMOCHROMATOSIS

Content:

• Define hemochromatosis/What is hemochromatosis?
• Classification
• Symptoms/Clinical manifestation
• Causes
• More about hemochromatosis

Define hemochromatosis:

It simply means excessive buildup of body iron. The normal body iron concentration is 4 grams, Where as in this disorder the body iron concentration exceeds as far as 20 – 40 grams.

Classification:

Hemochromatosis can be classified as follows:

1. Primary or hereditary hemochromatosis
2. Secondary hemochromatosis or hemosiderosis

• Primary hemochromatosis is a homozygous recessive inherited disorder due to excessive absorption of body iron.
• Secondary hemochromatosis is accumulation of iron in tissues that may occur secondary to other disorders.

Symptoms/Clinical manifestations:

1. Presents in males over 40 years of age.
2. Cirrhosis with hepatosplenomegaly (enlargement of liver and spleen), loss of libido, testicular atrophy, spiders, loss of body hair, jaundice and ascites.
3. Diabetes mellitus in 75 – 80% cases (bronze diabetes)
4. Leaden-grey skin pigmentation due to excess melanin in exposed parts like axilla (arm pits), groins and genitalia.
5. Heart failure and arrhythmia
6. Hepatocellular carcinoma in 30% of patients with cirrhosis.
7. A large proportions of patients are asymptomatic and identified by serum iron studies as part of screening studies and screening of family members of an affected individual.

Causes:

1. In hemochromatosis, there may be mutation in HIV, TfR2 and HFE (located on chromosome 6) which leads to absence in hepcidin (hormone which keeps iron absorption in check), thus in turn leads to absorption of iron even when there is substantial increase in body iron stores. This results in accumulation of iron mainly in liver. Symptoms develops usually when the stored iron exceeds 20 gram.
2. Secondary hemochromatosis may occur due to one or more of the following:

• Chronic anemia
• Beta thalassemia
• Sideroblastic anemia
• Chronic hemolytic anemia
• Multiple blood transfusion
• Repeated iron injection
• Prolonged oral iron
• chronic liver disease

More about hemochromatosis:

• In hemochromatosis, total body iron is increased to 20 – 60 grams (normal bodyiron concentration is around 4 gram)
• Patients with hemochromatosis absorb only a few milligram of iron in excess of physiological needs and this symptoms often occur at 40 – 60 years of age, when 20 – 40 gram of excess iron has been accumulated.
• 90% of the patients are male. Females are protected by the iron loss in menstruation and pregnancy.
• In secondary hemochromatosis, iron accumulates in kupfer cells, whereas in hereditary hemochromatosis iron accumulates in the hepatocytes.
• There is high incidence of hepatocellular carcinoma.
• Hemosiderin gets deposited in the following organs (in decreasing order of severity): liver, pancreas, myocardial, pituitary gland, adrenal gland, thyroid gland and parathyroid gland, joints and skin.