Hemophilia – Symptoms and Causes
What is Hemophilia?
Hemophilia is a rare blood condition. People with hemophilia bleed longer than normal after injuries because their blood cannot form strong clots.
Minor cuts are usually manageable for people with hemophilia. However, those with severe forms face greater risks from internal bleeding, particularly in joints like knees, ankles, and elbows.
This internal bleeding can cause serious damage to organs and tissues and may become life-threatening if not treated.
The condition is almost always inherited through genetics. Treatment typically involves regularly replacing the missing clotting factor through infusions. Medical professionals now also use newer therapies that work differently than traditional factor replacements.
Without proper treatment, hemophilia can lead to:
- Joint damage from repeated bleeding
- Chronic pain
- Limited mobility
- Complications from internal bleeding
Warning Signs
When blood seeps into the brain tissue, it creates a dangerous situation. This rare but serious complication can happen to people with severe hemophilia after even a minor head bump. Look for these warning signs:
- Strong, lasting headaches
- Throwing up multiple times
- Unusual sleepiness or tiredness
- Seeing double
- Sudden loss of coordination or strength
- Seizures or convulsions
When Medical Help Is Needed
Get emergency care right away if you notice:
- Any signs of brain bleeding as listed above
- Bleeding that won’t stop after an injury
- Joints that become swollen, painful to move, and feel hot
For people with hemophilia, everyday cuts might bleed longer than normal. You might also notice:
- Excessive bleeding after surgeries, dental procedures, or injuries
- Unusually large or deep bruises
- Unexpected bleeding after getting vaccines
- Pain or swelling in joints
- Blood in urine or bowel movements
- Nosebleeds without obvious causes
- Unexplained fussiness in babies
These symptoms vary based on how severe the clotting factor deficiency is. People with mild cases might only bleed excessively after surgery or injury, while those with severe cases may bleed spontaneously.
Why People Get Hemophilia
When You’re Born With It
Hemophilia often runs in families. People with this condition lack enough of the special proteins called clotting factors. Without these proteins, blood doesn’t clot properly to stop bleeding.
The most common type is type A hemophilia. People with this form have low levels of factor 8. Type B hemophilia is less common and happens when there’s not enough factor 9.
Both types affect how well blood can form clots. When someone has healthy levels of these factors, their body can quickly stop bleeding after an injury.
When It Develops Later in Life
Some people get hemophilia without any family history of the condition. This is called acquired hemophilia.
In acquired hemophilia, the body’s immune system mistakenly attacks its own clotting factors. Several things might trigger this unusual response:
- Pregnancy
- Immune system disorders
- Certain cancers
- Multiple sclerosis
- Reactions to medications
This form is quite rare compared to the inherited types.
How It’s Passed Down
The faulty gene sits on the X chromosome. Since males have only one X chromosome (with a Y chromosome as their other sex chromosome), a single faulty gene causes the condition.
Females have two X chromosomes, so typically if one X chromosome has the faulty gene, the other healthy X chromosome can compensate. This makes most women carriers without symptoms.
| Sex | Chromosomes | Impact of Hemophilia Gene |
|---|---|---|
| Male | XY | One faulty gene causes hemophilia |
| Female | XX | Usually becomes a carrier without symptoms |
Boys usually get hemophilia through their mother’s genes. Some female carriers may experience mild bleeding problems if their clotting factor levels are moderately low.
Risk Factors
Family history is the most significant risk factor for hemophilia. If your relatives have this blood disorder, you may also develop it. Gender plays an important role too—males have a much higher chance of having hemophilia compared to females.
Complications
Hemophilia can lead to several serious health issues if not properly managed. People with this condition may experience deep internal bleeding that causes limb swelling.
This swelling can press on nerves and result in numbness or pain. In severe cases, this internal bleeding can be life-threatening.
When bleeding occurs in the throat or neck area, it may interfere with breathing and require immediate medical attention. This is considered a medical emergency.
Joint damage is another common complication. Internal bleeding puts pressure on joints, causing severe pain. Without proper treatment, repeated bleeding episodes can lead to arthritis or permanent joint destruction over time.
Treatment-related complications can also develop. Clotting factors derived from human blood carry a small risk of viral infections like hepatitis C. Though rare due to improved screening methods, this is something to be aware of.
Some individuals with severe hemophilia develop inhibitors—proteins that work against the clotting factors used in treatment. This immune system response makes standard treatments less effective and requires alternative approaches.
