Hemophilia is an inherited bleeding disorder that impairs blood clotting, leading to spontaneous bleeding and prolonged bleeding after injuries or surgery. It results from low levels of clotting factors, specifically factor VIII (8) or factor IX (9). The disorder's severity depends on the factor levels, with lower levels posing a higher risk of bleeding. In rare cases, hemophilia can develop later in life, often affecting middle-aged or elderly individuals or young women in late pregnancy or postpartum. Appropriate treatment can often resolve this condition.
Causes of Hemophilia
Hemophilia is caused by a mutation or alteration in one of the genes responsible for producing clotting factor proteins needed for blood clot formation. This mutation can either hinder the proper functioning of the clotting protein or result in its absence altogether. These genes are situated on the X chromosome. In terms of genetics, males have one X and one Y chromosome (XY), while females have two X chromosomes (XX). Males inherit their X chromosome from their mothers and the Y chromosome from their fathers. In contrast, females inherit one X chromosome from each parent. The X chromosome carries numerous genes not found on the Y chromosome. Consequently, males possess only one copy of most X chromosome genes, whereas females have two. This means that males can develop hemophilia if they inherit an affected X chromosome carrying a mutation in either the factor VIII or factor IX gene. While it is much rarer, females can also have hemophilia in cases where both X chromosomes are affected or one is affected while the other is missing or inactive. In such instances, bleeding symptoms in females may resemble those in males with hemophilia.
Hemophilia Inheritance and Effects
A female who carries one affected X chromosome is termed a "carrier" of hemophilia. Occasionally, carrier females can exhibit symptoms of hemophilia and can also pass on the affected X chromosome carrying the clotting factor gene mutation to their children. This inheritance pattern varies in families, and while hemophilia tends to run in some families, others may have no prior history of the disorder. Sometimes, there may be carrier females in the family, but no affected boys, purely due to chance. However, approximately one-third of the time, a baby with hemophilia is the first in the family to be affected by a mutation in the clotting factor gene. Hemophilia can lead to various complications, including:
1. Bleeding within Joints: This can result in chronic joint disease and persistent pain.
2. Bleeding in the Head and Brain: Such bleeding can lead to long-term problems, including seizures and paralysis.
In severe cases, hemophilia can be life-threatening, especially if the bleeding cannot be stopped or if it occurs in vital organs like the brain.
Types of Hemophilia
1. Hemophilia A (Classic Hemophilia): This type occurs due to a lack or decrease of clotting factor VIII.
2. Hemophilia B (Christmas Disease): This type results from a lack or decrease of clotting factor IX.
Signs and Symptoms of Hemophilia
Common signs of hemophilia to watch for include:
- Joint Bleeding: This often affects the knees, elbows, and ankles, leading to swelling, pain, or tightness in these joints.
- Skin and Muscle Bleeding: This manifests as bruising or a buildup of blood in muscle and soft tissues, known as a hematoma.
- Mouth and Gum Bleeding: Bleeding in these areas, which can be challenging to stop, such as after losing a tooth or undergoing circumcision.
- Bleeding After Shots: Some individuals may experience bleeding after receiving vaccinations.
- Infant Head Bleeding: In cases of difficult deliveries, bleeding in the head of an infant can occur.
- Blood in Urine or Stool: This is another possible symptom.
- Frequent and Persistent Nosebleeds: Nosebleeds that are difficult to stop may also indicate hemophilia.
Who is Affected by Hemophilia
- Hemophilia occurs in approximately 1 out of every 5,000 male births.
- Recent data from federally funded hemophilia treatment centers (2012-2018) estimates that between 20,000 to 33,000 males in the United States are living with the disorder.
- Hemophilia A is roughly four times more common than hemophilia B, and approximately half of those affected have the severe form.
- Hemophilia affects individuals across all racial and ethnic groups.
Diagnosis of Hemophilia
- Many families with a history of hemophilia have their baby boys tested shortly after birth.
- About one-third of babies diagnosed with hemophilia have a new mutation not found in other family members. In these cases, doctors may test newborns if they exhibit signs of hemophilia.
- Diagnosis involves specific blood tests to assess clotting, followed by clotting factor tests (factor assays) to determine the type and severity of hemophilia.
Treatment of Hemophilia
The primary treatment for hemophilia involves replacing the missing blood clotting factor, enabling proper blood clotting. This is achieved through infusions of commercially prepared factor concentrates, usually administered intravenously.
Individuals with hemophilia can learn self-infusion techniques, allowing them to manage and stop bleeding episodes themselves. Regular infusions, known as prophylaxis, can also prevent most bleeding episodes.
Quality medical care provided by knowledgeable doctors and nurses specializing in hemophilia is essential to prevent serious complications. Comprehensive Hemophilia Treatment Centers (HTCs) are often the preferred choice for care. These centers not only address hemophilia-related issues but also offer health education to help individuals with hemophilia maintain their overall well-being.
Inhibitors
Approximately 15-20 percent of people with hemophilia develop inhibitors, which are antibodies that inhibit the clotting factors' ability to stop bleeding. Managing bleeding episodes becomes challenging in the presence of inhibitors, often requiring more clotting factor or a different type of clotting factor. Consequently, the cost of care for individuals with inhibitors can significantly increase. Those with inhibitors may experience more joint disease and other bleeding-related complications, leading to a reduced quality of life.
Tips for Healthy Living with Hemophilia
1. Annual Checkup: Schedule an annual comprehensive checkup at a specialized Hemophilia Treatment Center (HTC) to monitor your condition and overall health.
2. Vaccinations: Protect yourself by getting vaccinated against preventable diseases like Hepatitis A and B.
3. Prompt Bleed Treatment: Treat any bleeding episodes promptly and effectively to minimize complications.
4. Physical Activity: Engage in regular exercise and maintain a healthy weight to safeguard your joints.
5. Infection Screening: Undergo regular testing for blood-borne infections to ensure early detection and appropriate ma nagement.
By Andrew Anongu, DailyHealth.
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