Iron is an important mineral that helps the body to produce haemoglobin, which in turn helps transport oxygen through the blood to the whole of your body. That’s why iron absorption is a key process, by which the body takes in iron from the diet and incorporates it into the bloodstream. Sometimes, though, the body can absorb too much iron, leading to a condition called haemochromatosis. Speaking with the OnlyMyHealth team, Dr Sheetal Sharda, clinical geneticist and director of genomics division, Neuberg Centre for Genomic Medicine (NCGM), Ahmedabad, explains the cause and the symptoms to watch out for.
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What Causes Haemochromatosis?
“Haemochromatosis occurs due to a variation in the HFE gene, which regulates iron absorption in the body,” said Dr Sharda, adding, “This genetic disorder leads to excessive absorption of iron from the diet, even when the body's iron stores are sufficient.”
According to the doctor, the most common form, Hereditary Haemochromatosis (HH), is inherited in an “autosomal recessive manner”, which is basically one of several ways that a trait or disorder can be passed down through families.
“The mutated HFE gene causes increased iron uptake, resulting in iron accumulation in various organs over time, including the liver, heart, pancreas, and joints. This iron overload can lead to organ damage and dysfunction. Early diagnosis and management are essential to prevent complications associated with haemochromatosis,” the doctor added.
"In hemochromatosis, men are affected around 2-3 times as often as women... Women with hemochromatosis become symptomatic later in life than men, due to the blood loss and consequent iron excretion associated with menstruation," says a study hosted by the US National Library of Medicine.
The academic paper adds, "In men, the disease usually becomes apparent in the fifth decade; however, in women, it presents in the sixth decade often. In contrast, juvenile hemochromatosis may appear in persons aged 10-30 years."
Symptoms Of Haemochromatosis To Watch Out For
Symptoms of haemochromatosis can vary among individuals and may not manifest in the early stages, as per Dr Sharda. Some common symptoms include:
- Fatigue and weakness
- Joint pain and stiffness (especially in the hands)
- Abdominal pain
- Irregular menstruation in women
- Bronze or greyish skin colour
- Enlarged liver or spleen
- Diabetes
- Heart problems
“Recognising these signs, along with appropriate diagnostic tests, can aid in identifying haemochromatosis and initiating timely treatment to prevent further complications,” the doctor added.
According to Mayo Clinic, the most common type of hemochromatosis appears at birth but most people don't experience symptoms until later in life, usually after age 40 in men and after age 60 in women. As per the health research body, women are more prone to developing symptoms after menopause, when they stop losing iron due to menstruation and pregnancy.
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Can We Prevent Haemochromatosis?
Dr Sharda says haemochromatosis is primarily a genetic disorder, and there is no known way to prevent the condition entirely. However, early diagnosis and treatment play a crucial role in preventing complications associated with haemochromatosis, she adds.
“Regular screening for iron overload, especially in individuals with a family history of the disorder, can aid in early detection. Early diagnosis allows for timely intervention, such as phlebotomy (blood removal), which helps reduce iron levels in the body,” she explained, adding, “By managing iron levels through treatment, the risk of complications like liver cirrhosis, heart disease, and diabetes can be minimised.”