A rare genetic blood disorder that occurs when blood does not clot. As a result, bleeding may not slow down. If a person does not have the normal amount of clotting factors, hemophilia occurs. Physicians usually treat this disorder by replacing clotting factors, which can help to improve this blood disorder.
What is Hemophilia?
When the body does not make enough protein (clotting factors), an individual may be at higher risk of bleeding or bruising. Proteins in the blood work with platelets to form blood clots, which help to slow down bleeding. Moreover, hemophilia is classified into three types such as mild, moderate, and severe. Unfortunately, this is not a curable condition but doctors treat the disorder by replacing clotting factors. Treatment helps to lessen the symptoms and general quality of life. Therefore, people with hemophilia live as long as those who do not have this genetic disorder. Researchers look for gene replacement therapy as a new method of hemophilia treatment and potential cure.
Can People Develop Hemophilia?
It is possible to acquire this health condition but it happens very rarely. Acquired hemophilia not inherited commonly appears when antibodies begin to attack clotting factors.
Hemophilia Types
- Hemophilia A – When you do not have enough clotting factor 8 (factor VIII), this type of hemophilia happens. Moreover, this is the most common type of hemophilia. Approximately 10 in 100,000 people experience hemophilia A.
- Hemophilia B – This hemophilia type occurs when an individual does not have enough clotting factor 9 (factor IX). This hemophilia type is less common, roughly 3 in 100,000 people suffer from hemophilia B.
- Hemophilia C – This is the rarest hemophilia type which happens in one person in every 100,000. It develops when someone experiences factor 11 deficiency.
Additionally, if left untreated, hemophilia can provoke life-threatening bleeding. In case you suspect you have this condition, immediately contact your healthcare professional.
Symptoms
The most common hemophilia symptoms are bruising and bleeding.
- Someone may experience large bruising even due to minor injuries. It means that you have bleeding under your skin.
- An individual may bleed for an unusually long time, no matter the bleeding cause (such as surgery, dental treatment, a cut finger, or others).
- In some circumstances, a person may start bleeding for no reason, including a sudden bloody nose.
These two symptoms appear and last depending on the severity of the condition.
- Sudden bleeding or for no reason (severe)
- Bleeding is caused by serious injuries (moderate)
- Unusual bleeding may happen but only due to major surgery or injury (mild)
Check below for other hemophilia symptoms:
- Joint pain – Internal bleeding causes this.
- Bleeding into your brain – This symptom may occur in sporadic cases and a person can experience persistent headaches, double vision, sleepiness, and others. In case you notice any of the previous symptoms, contact your healthcare provider right away.
Additionally, children assigned male at birth are more likely to be diagnosed with this blood disorder. However, symptoms may appear during several months after birth. For example:
- Hematomas
- Fussiness
- Irritability
- Swollen lumps on their heads
- Bleeding
If you notice any of the symptoms listed above in your baby or children, immediately visit a physician.
Causes
In most cases, people develop this condition even if they do not have a family history or a serious health condition. Approximately 20% of hemophilia cases occur spontaneously.
Additionally, hemophilia types A and B are sex-linked disorders, which are inherited in a recessive manner that is linked with X chromosomes. Check below how it happens in detail:
- Every baby receives a set of chromosomes from both parents (biological mother and biological father). Therefore, if you get an X chromosome from both parents, you are assigned to female at birth but if you get an X chromosome from mother and a Y chromosome from father, you are assigned male at birth. As a result, the biological mother will give her baby every time X chromosome and the biological father will determine the assigned sex at birth by X or a Y chromosome.
- In case there is an abnormal gene factor of the X chromosome in a female, she carries hemophilia but it may be asymptomatic.
- If there is a defective gene for creating factor 8 or factor 9 of an X chromosome of a woman who has a male child, a 50% chance of inheriting the X chromosome and an abnormal gene factor.
- In case the child is assigned to a female at birth, that child has a 50% chance of inheriting faulty chromosomes and abnormal gene factors. However, these children may not experience any symptoms because they also inherit a normal X chromosome from their father.
Commonly, if a female carries hemophilia if inherits an abnormal gene factor and a faulty X chromosome. Thus, the condition can pass to their children with a 50% chance but without any symptoms. Furthermore, boys who inherit this condition are more likely to develop severe symptoms because they do not receive a normal X chromosome from their biological father.
Can Hemophilia Symptoms Develop in Women?
Yes, but symptoms tend to be mild. If females do not have normal clotting factors or enough clotting factors, they may experience heavy menstrual periods, easy bruising, and joint problems (usually after childbirth).
Diagnosis
A physical examination and questions about your symptoms and medical and family history are asked by your healthcare professional to determine whether you have this blood disorder or not. Check below some additional tests:
- Complete Blood Count (CBC)
- Prothrombin Time (PT) Test
- Activated Partial Thromboplastin Time Test
- Specific Clotting Factor Test(s)
Treatment
In most cases, doctors treat this condition by replacing missing clotting factors (replacement therapy). Thus, you receive human plasma concentrates or made in the laboratory clotting factors. Generally, people with this blood disorder require regular replacement therapy. In addition, people who need surgery also may get replacement therapy and antifibrinolytics (medicine that keeps blood clots from breaking down).
What are Treatment Complications?
In some cases, people who receive replacement therapy may develop antibodies. These are called inhibitors and they attack the clotting factor. Therefore, doctors usually use an immune tolerance induction (ITI) that involves clotting factors administered daily to bring down the levels of inhibitors. Unfortunately, ITI may be needed for long periods from months to years.
Frequently Asked Questions
How common is hemophilia?
This blood disorder usually occurs in males and people assigned to male at birth (AMAB). Approximately 33,000 people suffer from hemophilia in the United States according to the Centers for Disease Control and Prevention (CDC).
What are clotting factor levels?
Based on the amount of clotting factor in your blood, doctors usually categorize this health condition as being mild, moderate, or severe.
- Mild hemophilia (5%-30% of the normal amount of clotting factors in the blood)
- Moderate hemophilia (1%-5% of clotting factors in the blood)
- Severe hemophilia (less than 1% of the normal amount of clotting factors)
Consult with your physician for more details.
Is it possible to prevent hemophilia?
Unfortunately, it is not possible to prevent this health disorder. Furthermore, your doctor may recommend doing a genetic test to verify if your children have passed hemophilia. Ask your physician if you have any questions.
