Diagnosis and Screening of Hemochromatosis

People suffering from hemochromatosis mostly complain of joint pains. Other symptoms such fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems are also reported in patients affect by hemochromatosis.

Complications of Hemochromatosis

It is often difficulty for the physician to diagnose hemochromatosis.

In the event of lack of early diagnosis the following severe symptoms result in the people affected by hemochrmatosis:

  • Arthritis
  • Liver disease (liver enlargement, cirrhosis, cancer, and liver failure)
  • Damage to the pancreas(may cause diabetes)
  • Heart abnormalities (Mostly irregular heart beat & congestive heart failure)
  • Impotence
  • Early menopause
  • Abnormal pigmentation of the skin
  • Thyroid deficiency
  • Damage to the adrenal glands

Popular Diagnostic Tests for Hemochrmomatosis

Transferrin Saturation Test:

It essentially reveals the amount of iron bound to haemoglobin (oxygen carrying protein) Transferrin saturation values higher than 45 percent are considered very high.

Special Blood Test

: Doctors at times go for a special blood test to detect the presences of HFE mutation

Liver biopsy:

Liver biopsy reveals the amount of iron accumulated in the liver and also any resultant damages present in the liver.

Screening of Hemochromatosis

Screening the relatives of the affected people is very helpful in the prevention and curing of the disease. Experts generally make following suggestion in this regard:

  • Siblings of the affected people must be tested- to rule out the presence of any potential causative agent such as gene mutation- in them.
  • Parents as well as children and other close relatives must also be tested to rule of the presence of disease.
  • Apart form the above groups others such as patients of heart disease, diabetes and also people suffering from fatigue, impotence must also be tested for hemochromatosis. People in whom elevated levels of liver enzymes are noticed must also be subjected to timely screening.

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