Hemophilia is a rare, predominantly inherited bleeding disorder where the blood doesn’t clot properly. This is due to a deficiency or absence of specific blood-clotting proteins, known as clotting factors. Individuals with hemophilia may experience prolonged bleeding after an injury compared to those with normal clotting abilities. While minor cuts are usually not a significant concern, severe hemophilia can lead to serious internal bleeding, particularly in the joints (knees, ankles, and elbows). Such internal bleeds can cause damage to organs and tissues, posing a life-threatening risk.
Hemophilia is most often a genetic condition. Treatment primarily involves regularly replacing the deficient clotting factor. Newer therapies that don’t contain clotting factors are also available.
Symptoms of Hemophilia
The symptoms of hemophilia are directly related to the levels of clotting factors in the blood. Individuals with mildly reduced clotting factors may only experience bleeding after surgery or trauma. Conversely, those with severe deficiencies may bleed easily, even spontaneously.
Common signs and symptoms of spontaneous bleeding include:
- Unexplained and excessive bleeding from cuts, injuries, surgery, or dental procedures.
- Numerous large or deep bruises.
- Unusual bleeding following vaccinations.
- Joint pain, swelling, or tightness.
- Blood in urine or stool.
- Nosebleeds without a clear cause.
- In infants, unexplained irritability.
Bleeding into the Brain: A Serious Complication
Even a minor head injury can trigger bleeding into the brain in individuals with severe hemophilia. Although rare, this is an extremely serious complication. Symptoms may include:
- Prolonged, painful headache.
- Repeated vomiting.
- Sleepiness or lethargy.
- Double vision.
- Sudden weakness or clumsiness.
- Seizures.
When to Seek Medical Attention
It is crucial to seek immediate medical attention if you or your child experiences:
- Signs or symptoms of bleeding into the brain.
- An injury where bleeding is uncontrollable.
- Swollen joints that are warm to the touch and painful to move.
Causes of Hemophilia
Blood clotting is a complex process. When bleeding occurs, the body gathers blood cells to form a clot and stop the bleeding. Clotting factors are essential proteins that work with platelets to create these clots. Hemophilia develops when one or more of these clotting factors are missing or present at insufficient levels.
Congenital vs. Acquired Hemophilia
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Congenital Hemophilia: The vast majority of hemophilia cases are inherited, meaning individuals are born with the condition. Congenital hemophilia is categorized based on the specific clotting factor deficiency. Hemophilia A, caused by a deficiency in factor VIII (8), is the most common type. Hemophilia B, resulting from a deficiency in factor IX (9), is the second most prevalent.
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Acquired Hemophilia: In rare instances, individuals can develop hemophilia even without a family history. This is known as acquired hemophilia, and it occurs when the body’s immune system mistakenly attacks clotting factor VIII (8) or IX (9). This condition can be associated with:
- Pregnancy
- Autoimmune diseases
- Cancer
- Multiple sclerosis
- Adverse drug reactions
The Role of Genetics in Hemophilia
The genes responsible for the most common types of hemophilia are located on the X chromosome. Humans have two sex chromosomes, one inherited from each parent. Females receive an X chromosome from both parents (XX), while males inherit an X chromosome from their mother and a Y chromosome from their father (XY).
This inheritance pattern means that hemophilia primarily affects males and is passed down from mother to son. Women with a defective gene on one of their X chromosomes are typically carriers, often without showing any symptoms of hemophilia. However, some carriers may experience bleeding symptoms if their clotting factor levels are moderately low.
Risk Factors for Hemophilia
The most significant risk factor for hemophilia is having a family history of the disorder. Males are significantly more likely to have hemophilia than females due to the X-linked inheritance pattern.
Potential Complications of Hemophilia
Hemophilia can lead to several complications, including:
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Deep Internal Bleeding: Bleeding within deep muscles can cause swelling in the limbs. This swelling can compress nerves, leading to numbness or pain. Depending on the location of the bleeding, it can become life-threatening.
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Bleeding into the Throat or Neck: This can compromise a person’s ability to breathe.
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Joint Damage: Internal bleeding can put pressure on joints, resulting in severe pain. Untreated, repeated internal bleeding can lead to arthritis and joint destruction.
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Infection: If clotting factors derived from human blood are used, there’s a potential risk of viral infections, such as hepatitis C. However, with advanced donor screening techniques, this risk is now relatively low.
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Adverse Reactions to Clotting Factor Treatment: Some individuals with severe hemophilia may develop an immune response to the clotting factors used in treatment. This can lead to the development of antibodies that inhibit the clotting factors, reducing the effectiveness of the therapy.
Conclusion: Living with Hemophilia
While hemophilia presents significant challenges, advancements in treatment have greatly improved the quality of life for individuals with the condition. Regular monitoring, prompt treatment of bleeding episodes, and adherence to a comprehensive care plan are crucial for managing hemophilia and preventing complications. Further research continues to explore new and innovative therapies aimed at improving the lives of those affected by this rare bleeding disorder.
References
- Bleeding disorders. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/bleeding-disorders. Accessed June 10, 2021.
- AskMayoExpert. Hemophilia. Mayo Clinic; 2021.
- Hoots WK, et al. Hemophilia A and B: Routine management including prophylaxis. https://www.uptodate.com/contents/search. Accessed June 10, 2021.
- Hemophilia. Merck Manual Professional Version. https://www.merckmanuals.com/professional/hematology-and-oncology/coagulation-disorders/hemophilia?query=hemophilia#. Accessed June 10, 2021.
- Weyand AC, et al. New therapies for hemophilia. Blood. 2019; doi:10.1182/blood-2018-08-872291.
- What is hemophilia? Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/hemophilia/facts.html. Accessed June 10, 2021.
- Hoots WK, et al. Treatment of bleeding and perioperative management in hemophilia A and B. https://www.uptodate.com/contents/search. Accessed June 10, 2021.
- Morrow ES. Allscripts EPSi. Mayo Clinic. April 14, 2021.
