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Hemochromatosis

Hemochromatosis involves excessive iron absorption, leading to iron buildup in organs and potential damage; it's often hereditary due to gene mutations affecting iron regulation.

Hematology
Hemochromatosis is a condition in which your body absorbs too much iron from the food you eat. Normally, the intestines absorb just enough iron to meet the body's needs. However, in hemochromatosis, the body absorbs excessive amounts of iron, which then builds up in various organs, including the liver, heart, pancreas, and joints. Over time, this iron overload can lead to serious organ damage and life-threatening complications if not treated. The most common type is hereditary hemochromatosis, caused by genetic mutations. Causes: Hemochromatosis can be either hereditary (primary) or acquired (secondary). Hereditary hemochromatosis is the most common form and is caused by genetic defects.
  • Hereditary Hemochromatosis (Primary Hemochromatosis):
    • Caused by mutations in genes that control iron absorption. The most common mutation is in the HFE gene (C282Y and H63D mutations).
    • If you inherit two copies of the mutated gene (one from each parent), you are at risk of developing iron overload.
    • If you inherit one copy, you are a carrier but typically do not develop the condition, though you might have slightly elevated iron levels.
  • Secondary Hemochromatosis (Acquired Hemochromatosis):
    • Frequent Blood Transfusions: For conditions like thalassemia, sickle cell anemia, or myelodysplastic syndromes, where patients receive many transfusions, each unit of blood contains iron that the body cannot easily excrete.
    • Excessive Iron Supplementation: Taking too many iron pills over a long period.
    • Certain Liver Diseases: Such as chronic hepatitis C, alcoholic liver disease, or non-alcoholic steatohepatitis (NASH), which can impair iron regulation.
    • Rare Metabolic Disorders: Like aceruloplasminemia or atransferrinemia, which affect iron metabolism.
Symptoms: Symptoms of hemochromatosis often develop slowly and may not appear until middle age or later, after significant iron has accumulated. Early symptoms can be vague and mimic other conditions.
  • Joint Pain: Especially in the knuckles of the first two fingers.
  • Fatigue: Persistent and unexplained tiredness.
  • Weakness.
  • Abdominal Pain: Often in the upper right quadrant.
  • Loss of Libido (Sex Drive).
  • Impotence (Erectile Dysfunction) in Men.
  • Irregular Periods or Early Menopause in Women.
  • Heart Problems:
    • Irregular heartbeats (arrhythmias).
    • Cardiomyopathy (enlarged heart).
    • Heart failure.
  • Liver Disease:
    • Enlarged liver (hepatomegaly).
    • Cirrhosis (scarring of the liver), which can lead to liver failure or liver cancer.
  • Diabetes: Due to iron damage to the pancreas.
  • Skin Changes: Gray or bronze skin color (often called "bronze diabetes").
  • Hair Loss.
  • Memory Fog or Mood Changes.
Diagnosis: Diagnosis of hemochromatosis involves blood tests to check iron levels, genetic testing, and sometimes imaging or biopsy to assess organ damage.
  • Blood Tests:
    • Serum Transferrin Saturation: Measures the amount of iron bound to transferrin, a protein that transports iron in the blood. A high percentage (over 45%) suggests iron overload.
    • Serum Ferritin: Measures the amount of iron stored in the body. High ferritin levels indicate excessive iron stores.
  • Genetic Testing: If blood tests suggest iron overload, genetic testing for HFE mutations (C282Y and H63D) confirms hereditary hemochromatosis.
  • Liver Biopsy: A small sample of liver tissue is removed and examined under a microscope to measure iron content and assess for liver damage (e.g., cirrhosis). This is less common now with advanced imaging.
  • Imaging Tests:
    • MRI (Magnetic Resonance Imaging): Can be used to quantify iron levels in the liver, heart, and other organs non-invasively.
    • CT Scan (Computed Tomography): May be used to assess organ damage.
  • Liver Function Tests (LFTs): To check for signs of liver damage.
Treatment: The primary treatment for hemochromatosis aims to reduce iron levels in the body and prevent or minimize organ damage. Early diagnosis and treatment are crucial.
  • Phlebotomy (Blood Removal):
    • The most common and effective treatment. It involves regularly removing blood from the body, similar to donating blood.
    • Initially, blood may be removed frequently (e.g., once a week) until iron levels return to normal.
    • Once iron levels are normalized, maintenance phlebotomy is performed less frequently (e.g., every 2-3 months) to keep levels in the healthy range.
  • Chelation Therapy:
    • Used for people who cannot undergo phlebotomy (e.g., due to anemia, certain heart conditions, or severe iron overload).
    • Medications are given orally or by injection that bind to excess iron, allowing it to be excreted in urine or stool. Examples include deferoxamine, deferiprone, and deferasirox.
  • Dietary Modifications:
    • Avoid iron supplements and multivitamins containing iron.
    • Avoid vitamin C supplements: Vitamin C enhances iron absorption, so it should not be taken at the same time as iron-rich meals or supplements.
    • Limit iron-rich foods: Such as red meat, especially organ meats.
    • Avoid raw shellfish: Can contain bacteria that thrive in iron-rich environments and cause serious infections in people with hemochromatosis.
    • Avoid alcohol: Alcohol can increase iron absorption and is toxic to the liver, exacerbating liver damage in hemochromatosis.
  • Treatment of Complications:
    • Medications for diabetes, heart conditions, or joint pain.
    • Management of cirrhosis or liver cancer if they develop.
  • Genetic Counseling: For family members of individuals with hereditary hemochromatosis to understand their risk and consider testing.
Regular monitoring of iron levels and organ function is essential for individuals with hemochromatosis to ensure effective management and prevent complications.

Related Medications

We currently have no information on related medications for this condition. Check back later for updates.