From the Research
Hemochromatosis is a disorder characterized by excessive iron absorption and accumulation in the body's tissues, which can lead to organ damage, and the most common form is primary or hereditary hemochromatosis, caused by genetic mutations, with HFE-related hemochromatosis (Type 1) being the most prevalent, typically involving C282Y and H63D mutations in the HFE gene, as reported in the most recent study 1.
Types of Hemochromatosis
There are several types of hemochromatosis, including:
- Primary or hereditary hemochromatosis, which is the most common form and is caused by genetic mutations
- Non-HFE hemochromatosis, which includes Type 2 (juvenile hemochromatosis), further divided into Type 2A (hemojuvelin gene mutations) and Type 2B (hepcidin gene mutations), Type 3 (transferrin receptor 2 gene mutations), and Type 4 (ferroportin disease)
- Secondary hemochromatosis, which develops as a result of other conditions such as chronic liver disease, multiple blood transfusions, or certain anemias that cause increased iron absorption
- Neonatal hemochromatosis, a rare form affecting newborns
Diagnosis and Treatment
Diagnosis of hemochromatosis requires confirmation of increased serum ferritin levels and transferrin saturation, with or without symptoms, as stated in 2. Treatment typically involves regular phlebotomy (blood removal) to reduce iron levels, with chelation therapy used in cases where phlebotomy isn't suitable, and early diagnosis and treatment are crucial to prevent complications like liver cirrhosis, diabetes, heart problems, and joint damage, as mentioned in 1.
Key Points
- Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron, as reported in 3
- The HFE gene is responsible for the majority of cases of hereditary hemochromatosis, with mutations in the HFE protein compromising its function and producing disease symptoms, as stated in 4
- The protein product of the HFE gene is a transmembrane glycoprotein that modulates iron uptake, and mutations in the HFE protein can lead to disease symptoms, as mentioned in 5