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  Oct 23, 2018
Hemochromatosis Treatments
Hemochromatosis Treatments
  Oct 23, 2018

Hereditary hemochromatosis is a genetic disease in which iron absorption is significantly increased, leading to the overload of iron in the body. It is most often seen in families descended from the North European people and affects about a million people in the USA. It can cause widespread and irreversible organ failure if left untreated; however, it can be easily treated if diagnosed well in time.

Hereditary Haemochromatosis. Image Credit: Joshya / Shutterstock

The genetic flaw leading to hemochromatosis is in one of the enzymes that regulate iron absorption from the intestinal lumen. In women, menstruation leads to regular blood loss and therefore the symptoms of iron overload are usually delayed until menopause (when the menstrual bleeding stops), and is typically are seen after the age of 65 years. Men usually become symptomatic between 50 and 60 years of age.

The scope of iron deposition and related organ damage includes the cells of the pancreas (causing diabetes), the liver (hepatic cirrhosis and cancer), the heart (heart muscle damage), the skin (causing bronzing), the joints (arthropathy) and pituitary gland.



Treatment Options: Phlebotomy

Currently, the specific treatment for this condition is to perform regular scheduled phlebotomies or bloodletting sessions. Phlebotomy is a simple procedure of introducing a large-bore needle into a vein of the arm, with the patient in a reclining position and allowing blood to drain out of the body by gravity, into a sterile blood bag container. In most cases, a pint (470 mL) is removed at a time.

Blood is composed of red blood cells (RBCs) and RBCs contain iron. When blood is removed from the body, the body is forced to utilize more iron to replace the lost RBCs, thereby leading to overall reduction of iron from the body.

Initial Phase

In the first phase of treatment, more frequent phlebotomies are performed to lower iron levels, typically 1-2 sessions a week or in a month. This phase may last for months, and the volume of blood removed, as well as the frequency, is dictated by the patient’s age, presence of other medical complications, general health and how much iron overload is present.


Once the blood tests show a reduction of the body iron, the number of phlebotomies can be decreased. It may be required once a month or once every 2-4 months. This maintenance phase of keeping the iron levels normal continues lifelong. Yearly review of iron levels determines the frequency of phlebotomies. Some patients do not need any more treatment once the iron levels have been normalized in the initial phase, while others accumulate iron rapidly enough to need phlebotomy once a month.
Early initiation of phlebotomy can prevent organ damage, however even at the later stages, if there is an onset of complications; it helps in reducing the symptoms due to organ damage and prolongs the lifespan.

Chelation Therapy

Some patients are not fit for phlebotomy, as for instance, those with significant anemia or heart disease. In such cases iron removal from the body is facilitated by the use of certain compounds which bind iron in soluble form and the excess can be removed through urine or feces. The approved iron chelators are used in pill form or as injections. The injections are used in subcutaneous form and administered over 8‑12 hours using a pump, which runs at night.
Oral chelators may be taken by dissolving them in water or juice, once daily. Some newer formulations allow them to be swallowed as a pill on an empty stomach. Oral chelators are well tolerated however, should not be used in people with high-risk myelodysplastic syndrome. Some of them may have potentially dangerous side effects such as agranulocytosis and should, therefore, be used only under after a physician’s recommendation followed by a regular monitoring.
Adverse effects of iron chelators include:

  • Nausea and vomiting
  • Dizziness
  • Diarrhea
  • Skin Rashes
  • Vision and hearing difficulties

Iron chelators reduce body iron overload very effectively. However, an early side effect may include renal and liver injury and most side effects subside once the body accustoms itself to the drug. Yearly monitoring and retests for the baseline measurement of renal and liver function, visual and auditory testing is recommended to monitor such side effects. Ascorbic acid, which increases iron absorption, should be avoided unless prescribed. However, in a subset of patients, it may be beneficial at daily doses of 100 mg or less.

Self-Care in Hemochromatosis

Patients with hemochromatosis can improve their condition by measures such as:

  • Avoiding all foods and supplements fortified with iron
  • Avoiding vitamin C supplements
  • Avoiding alcohol which predisposes to hepatic cirrhosis on its own
  • Avoiding seafood, especially shellfish and raw fish, as they may harbor some bacteria to which patients with hemochromatosis are more vulnerable


Once the iron levels decrease organ function improves. Patients experience less tiredness, relief in abdominal pain, and improvement of skin pigmentation. However, cirrhosis of the liver is irreversible and regular monitoring must be instituted to detect liver cancer early.