History of Hemophilia
Hemophilia has been known since the second century AD, with the term “hemophilia” first used in the 1800s. It gained recognition due to its prevalence in European royal families, particularly among the descendants of Queen Victoria.
Understanding hemophilia is important for early detection, effective treatment, and management, which can improve the quality of life for those affected and reduce the risk of severe complications.
Types of Hemophilia
Hemophilia A
- Also referred to as hemophilia classica.
- Caused by a deficiency in clotting factor VIII.
- The most common type, accounting for about 80% of cases.
Hemophilia B
- Also known as Christmas disease.
- Resulting from a deficiency in clotting factor IX.
- Less common, accounting for 20% of hemophilia cases.
Hemophilia C
- Caused by a deficiency in clotting factor XI.
- Much less severe and rare.
- Affects both genders equally.
Causes and Genetics
Genetic Mutations
- Hemophilia A: Caused by mutations in the F8 gene.
- Hemophilia B: Caused by mutations in the F9 gene.
- These genes provide instructions for producing clotting factors VIII and IX, respectively.
Inheritance Patterns
- Hemophilia A and B follow an X-linked recessive inheritance pattern.
- Males are more commonly affected due to having one X chromosome.
- Females are typically carriers and rarely exhibit severe symptoms due to having two X chromosomes.
Symptoms
- Excessive bleeding after injuries or trauma.
- Deep or large bruising.
- Unusual bleeding after immunizations.
- Joint pain, swelling, or stiffness.
- Blood in stool or urine.
- Frequent nosebleeds.
Diagnosis
- Blood tests to measure clotting factor levels.
- Genetic testing to identify mutations.
- Prenatal tests for families with known history.
Levels of Severity
- Mild: 5–40% of normal clotting factor levels.
- Moderate: 1–5% of normal clotting factor levels.
- Severe: Less than 1% of normal clotting factor levels.
Treatment and Management
Replacement Therapy for Clotting Factor
- Prevention (Prophylactic Therapy): Regular infusion of clotting factor concentrates to maintain adequate blood levels and reduce bleeding episodes.
- Episodic (On-Demand) Therapy: Infusion of clotting factor concentrates during bleeding episodes, suitable for those who don’t require ongoing prophylaxis or have mild to moderate hemophilia.
Types of Clotting Factor Concentrates
- Plasma-derived Concentrates: Made from human blood plasma.
- Recombinant Concentrates: Produced through genetic engineering, reducing infection risk.
Medications
- Desmopressin (DDAVP): For mild hemophilia A; stimulates release of von Willebrand factor and factor VIII.
- Antifibrinolytic Agents: Such as aminocaproic acid and tranexamic acid, used to prevent the breakdown of blood clots.
Lifestyle and Home Care
- Avoid High-Risk Activities: Refrain from contact sports and high-risk activities; opt for safer exercises like yoga and swimming.
- Wear Safety Equipment: Use protective gear during activities; ensure a safe home environment.
- Balanced Diet and Exercise: Maintain a balanced diet and engage in regular low-impact exercise.
- Dental Health: Practice good oral hygiene and inform the dentist about hemophilia.
Regular Monitoring and Medical Care
Treatment Centres for Hemophilia (HTCs)
- Specialized hospitals providing comprehensive care with a multidisciplinary team.
Frequent Examinations
- Regular visits to HTCs for health and clotting factor monitoring.
- Annual joint assessments to detect damage early.
Plan for Emergency Care
- Develop a strategy for handling bleeding incidents and educate family and caregivers.
Immunizations
- Stay up-to-date with vaccinations and opt for non-intramuscular immunizations when possible.
Complications
- Joint Damage: Repeated bleeding can lead to arthritis and joint damage.
- Infections: Risk of infection from blood product therapy, though screening has reduced this risk.
- Long-term Effects: Potential mobility issues, chronic pain, and psychosocial impacts like depression and anxiety.
Conclusion
Hemophilia is a genetic condition that severely impairs blood clotting, leading to prolonged bleeding and various complications. Early diagnosis, effective treatment, and appropriate care are crucial for improving the quality of life for individuals with hemophilia. Advances in treatment, including gene therapy and long-acting clotting factors, offer hope for better management in the future. Raising awareness and educating others is vital for ensuring timely intervention and reducing severe outcomes.
