Hemophilia
Hemophilia is a rare inherited bleeding disorder caused by low levels of blood clotting factors. It can lead to prolonged bleeding, interna bleeding in joints or muscles, and serious complications without proper care.
What is Hemophilia?
Hemophilia is a rare, inherited bleeding disorder in which the body lacks or has low levels of certain proteins called clotting factors. These proteins are essential for blood clotting—a process that stops bleeding after injury. Without them, a person can bleed longer than normal, and may also experience internal bleeding, particularly in joints, muscles, and vital organs.
Hemophilia can affect individuals at different levels of severity, depending on how much of the clotting factor is missing. Though the condition is rare, early diagnosis and informed health decisions—especially in families with a known history can significantly improve quality of life and reduce risks.
Common Symptoms of Hemophilia
Hemophilia may present in infancy or early childhood, but the timing and severity of symptoms depend on the individual. Key signs include:
- Unusual or excessive bruising, often without clear cause
- Prolonged bleeding after cuts, tooth extractions, surgeries, or vaccinations • Frequent nosebleeds
- Frequent nosebleeds
- Bleeding into joints (knees, elbows, ankles) causing swelling, pain, or limited movement
- Blood in urine or stool, indicating internal bleeding
In severe cases, spontaneous bleeding can occur without any injury. This can be dangerous, especially if bleeding happens inside the skull or abdominal organs. Over time, repeated joint bleeds may lead to chronic pain, joint damage, or disability if untreated.
How Hemophilia Is Inherited
Hemophilia is typically passed from parent to child through genes. It is inherited in an X-linked recessive pattern, meaning the gene responsible for the condition is located on the X chromosome.
- Males (XY) have one X and one Y chromosome. If their single X chromosome carries the faulty gene, they will have hemophilia
- Females (XX) have two X chromosomes. If one X carries the hemophilia gene, they are usually carriers—meaning they may not show symptoms, but can pass the gene to their children.
Inheritance scenarios
- A carrier mother has a 50% chance of having a son with hemophilia and a 50% chance of having a daughter who is also a carrier.
- A father with hemophilia will pass the gene to all of his daughters (making them carriers), but not to his sons.
In rare cases, hemophilia occurs without any family history, due to a new mutation in the child’s genes.
Types of Hemophilia
1. Hemophilia A (Classic Hemophilia)
- Caused by a deficiency of Factor VIII
- Most common type, accounting for about 80–85% of cases
- Affects approximately 1 in 5,000 male births
2. Hemophilia B (Christmas Disease)
- Caused by a deficiency of Factor IX
- Accounts for about 15–20% of hemophilia cases
- Affects about 1 in 25,000 male births
3. Hemophilia C
- Caused by a deficiency of Factor XI
- Much rarer; often milder
- Affects both males and females, more commonly seen in certain populations (e.g., Ashkenazi Jews)
4. Acquired Hemophilia
- Not inherited; develops later in life due to an autoimmune response that attacks clotting factors
- Can occur in both sexes and at any age
- Often linked to autoimmune conditions, pregnancy, or certain medications
Hemophilia Diagnosis and Testing
Hemophilia is diagnosed through blood tests that measure the level of clotting factor in the blood. These tests help determine the type of hemophilia (A or B) and its severity (mild, moderate, or severe).
Diagnosis is usually prompted by symptoms, family history, or abnormal bleeding. In families where hemophilia is known, early testing of newborns is strongly recommended.
Testing is also available for women to find out if they are carriers. This is especially important for:
- Women with a father, brother, uncle, or male cousin with hemophilia
- Women from families with a known history of bleeding disorders
- Women planning to marry a relative from a family where hemophilia is present
Pre-Marital and Pregnancy Testing
In communities where cousin marriage (consanguineous marriage) is common, and where family history of hemophilia exists, pre-marital and pregnancy testing becomes essential.
Pre-Marital Carrier Screening
Carrier testing before marriage allows individuals to understand the risk of passing hemophilia to their children. This empowers couples to make informed reproductive decisions, such as:
- Consulting genetic counselors
- Exploring reproductive options (e.g., pre-implantation genetic diagnosis)
- Preparing in advance for appropriate care
Pregnancy Testing
For women known or suspected to be carriers, prenatal tests during pregnancy such as chorionic villus sampling (CVS) or amniocentesis can determine if the fetus has hemophilia. These are safe and routine procedures when done by qualified professionals and are typically performed between 11 to 20 weeks of gestation.
Early diagnosis during pregnancy allows:
- Planning for safe delivery in a medical facility equipped to handle potential bleeding risks
- Avoiding invasive delivery procedures (like forceps or vacuum) that can be dangerous for affected newborns
- Immediate postnatal care if the baby is born with hemophilia
Hemophilia Treatment and Management
While hemophilia cannot be cured, it can be effectively managed with appropriate medical care.
The primary treatment is replacement therapy, in which the missing clotting factor (Factor VIII or IX) is infused into the bloodstream. This may be:
- On-demand, given after a bleeding episode
- Prophylactic, given regularly to prevent bleeding in people with severe hemophilia
Other supportive treatments include:
- Desmopressin (DDAVP) for mild Hemophilia A
- Physical therapy and joint care
- Pain management and rehabilitation for those with joint damage
- Education on preventing injuries and recognizing bleeding symptoms
With timely treatment and ongoing care, most people with hemophilia can lead active, healthy lives.
The Role of Awareness and Family Planning
Raising awareness about hemophilia, especially within families where the condition is already known is one of the most effective ways to reduce its long-term impact. Key steps include:
- Discussing family medical history openly
- Seeking carrier screening before marriage if hemophilia is known in the family
- Planning pregnancies with medical guidance and testing
- Testing newborns early when hemophilia is suspected
Making informed choices doesn’t mean avoiding marriage or children, it means being equipped with the knowledge to plan for care and safety.
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