Hemochromatosis is a pathological condition that contributes to an abnormal deposition of iron in the body, which in turn leads to a number of disease clusters. In 2024, the worldwide hemochromatosis market is projected at a value of USD 1.60 billion and reaching a figure of USD 2.41 billion by 2031, acquiring a CAGR of 6% between the years 2024 and 2031. The treatment of hemochromatosis becomes of great importance due to the buildup of excess iron in a patient’s body, which could significantly affect the organs. Because such iron excess is potentially harmful to these organs, it becomes important to find the disease in good time by establishing the correct diagnosis of hemochromatosis. This guide reviews the causes of the disease, the symptoms, and the procedure for diagnosing the condition, including the tests used by doctors for this purpose.
What Are the Causes of Hemochromatosis?
The causes of hemochromatosis can be segregated into hereditary and acquired causative factors. Of the various types of hemochromatosis, the most common type is hereditary fibrosis, where the genes are said to have been transferred from one or both parental lineages. These genes are said to carry the HFE gene C282Y mutation, and this gene mutation is the cause of hemochromatosis, as it leads the body to gather more iron from foods due to deficiency. Acquired factors include chronic blood loss anemia, repeated blood transfusions, and liver disorders, yet this condition is more often due to genetic inheritance as observed in hemochromatosis female and male patients.
Hemochromatosis Signs and Symptoms
Likely in many diseases, the symptoms of hemochromatosis appear to be developing over a broad time range in a condition known as iron overload, which in turn might complicate physical diagnosis. Iron overload leads to:
- Feeling fatigued and weak
- Developing pain in small joints like those in hands and knees
- Experiencing abdominal pain in combination with weakening of the liver
- Noticing a change in skin color to bronze or gray (also termed as bronze diabetes)
- Abnormal functioning of the heart or an increase in size, which could lead to heart failure.
- Impotence or sexual dysfunction in men
Hemochromatosis is a genetic disorder that may develop later in life due to iron build-up over time. Like their parents, individuals suffering from hemochromatosis may experience these symptoms during midlife. However, it is important to note that all patients do not show the same symptoms.
Hemochromatosis: Diagnosis
Seeking timely medical attention is critical in order to best prevent the progression and other complications of this disease. Healthcare professionals usually implement the following diagnosis methods:
- Blood Tests: Blood tests are a good starting point to assess whether the hemochromatosis condition is more severe than anticipated. Stage 2 or later levels of serum ferritin and transferrin saturation tests indicate an avalanche of iron is building up.
- X-ray tests: If blood tests do confirm an iron excess condition, genetic testing for mutations of the HFE gene should be the next point of focus.
Treatment of Hemochromatosis
Hemochromatosis is characterized by excessive iron in the body. The most efficient way to fix this is to eliminate excess iron from the body with medication or dialysis. When treated right and in a timely fashion, individuals are able to live a normal life.
Conclusion
All in all, it can be said that although hemochromatosis is an advanced and lethal disease. But if dealt with properly in its initial stages, it can be controlled. So one should look out for symptoms such as fatigue, joint problems, or even skin spots. Hemochromatosis diagnosis is vital for effective treatment and management.
