Haemachromatosis: Treatment, symptoms, advice and help

About haemachromatosis

Haemachromatosis is a form of iron overload disease which may be either hereditary or acquired. The intestinal tissues in a normal individual absorb adequate iron which is needed by the body. But in affected individuals, the intestinal absorption of iron exceeds the requirement. Subsequently this excess iron gets deposited in body tissues, resulting in a disorder called ‘haemachromatosis’.

Haemachromatosis: Incidence, age and sex

Haemachromatosis which is inherited, is usually present since birth but appears clinically only during adulthood. The caucasians of Northern European descent are more susceptible to haemachromatosis. Men are more prone to be afflicted with haemachromatosis, as compared with women.

Signs and symptoms of haemachromatosis: Diagnosis

The predominant symptom of haemachromatosis is pain in large joints, which can be accompanied by exhaustion and abdominal pain. As the disease progresses, jaundice, irregular heart rhythm and impotence may be noted. Women may complain of early menopause. The skin may become grey or bronze due to iron deposition.

The diagnosis of haemachromatosis is a difficult one. Specific blood tests like total iron binding capacity and serum ferritin may be recommended to detect the condition. A special genetic testing can be considered to discover mutation in HFE gene.

Causes and prevention of haemachromatosis

Haemachromatosis is most commonly hereditary, wherein it is due to primary iron overload. In occasional disorders like thalassemia and haemolytic anaemia, secondary iron overload takes place due to excessive destruction of red blood cells. This results in haemachromatosis which is acquired in nature. The inherited form of haemachromatosis occurs due to mutation in HFE gene which regulates the amount of iron absorption in body. The defect causes the body to absorb excess iron which gets stored in various organs like liver, heart and pancreas and subsequently damage them. Iron is an essential part of haemoglobin which transports oxygen from lungs to tissues.

Haemachromatosis: Complications

Haemachromatosis, if left untreated may lead to damage of various organs. Liver damage may result in cirrhosis or even liver failure. Damage to heart may result in cardiac arrythmias or heart failure. Like wise pancreatic damage causes onset of diabetes. In fact, a combination of diabetes and bronze skin is characteristically known as ‘bronze diabetes’.

Haemachromatosis: Treatment

Timely detection of disease is of utmost importance so that it can be effectively managed before any irreversible organ damage is done. The evaluation and subsequent management requires multi-disciplinary approach including an internist, endocrinologist, hepatologist, cardiologist, haematologist and gastroenterologist. The first and foremost step in treatment is to eliminate excess iron from body which is done by a procedure called phlebotomy. In this procedure, regular (almost 2 times a week) removal of small amount of blood is done. This is done for several weeks along with regular monitoring of blood ferritin level. When this level normalises, then frequency of removal of blood is reduced to 2 to 4 times a month. Moreover, alcohol avoidance and a diet limited in iron may also contribute to improvement in individual’s condition. Early diagnosis and treatment may prevent any organ damage.