Hemophilia is an inherited genetic condition that impairs the body's ability to form blood clots,  leading to prolonged bleeding after injury. This can cause easy bruising and a higher risk of  internal bleeding, especially in joints or the brain. Joint bleeding can lead to permanent  damage, while brain bleeding may cause headaches, seizures, or reduced consciousness. In  milder cases, bleeding may only occur after surgery or a serious injury. 

Types of Haemophilia 

The major types of this condition are hemophilia A (also known as classic hemophilia or factor  VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). 

Haemophilia "A" 

Haemophilia A is a genetic disorder characterized by a deficiency in clotting factor VIII, resulting  in excessive bleeding. It predominantly affects males. The primary symptoms of haemophilia A  include both internal and external bleeding, with prolonged bleeding from venipuncture often  being an early sign of the condition. 

Haemophilia "B" 

Haemophilia B is a clotting disorder caused by an inherited mutation in the factor IX gene,  leading to a deficiency of factor IX. 

The two main types of haemophilia are far more prevalent in males than females. Haemophilia  A is the most common type, affecting about 1 in 4,000 to 1 in 5,000 males globally. Haemophilia  B occurs in roughly 1 in 20,000 male newborns worldwide. 

Causes 

When a person bleeds, the body forms a clot using blood cells and clotting factors, which are  proteins that work with platelets. Hemophilia occurs when a clotting factor is missing or  insufficient. While most cases are inherited, rare cases of acquired hemophilia can develop later  in life. 

Congenital Hemophilia is a genetic disorder present at birth, where there is a deficiency or  absence of certain clotting factors in the blood. This type of hemophilia is inherited, usually  passed down through genes from parents, and is present from birth. The most common types are Hemophilia A (lack of factor VIII) and Hemophilia B (lack of factor IX).

Acquired Hemophilia is a rare condition that develops later in life, often due to an autoimmune  response. The immune system creates antibodies that disrupt clotting factors, leading to  bleeding problems. Unlike congenital hemophilia, it is not inherited and can occur at any age,  sometimes linked to autoimmune diseases, pregnancy, multiple sclerosis, drug reactions, or  certain cancers. 

Risk Factors 

• Family History: A family history of hemophilia or other bleeding disorders greatly increases  the likelihood of inheriting the condition. 
• Sex: Males are more prone to developing hemophilia because they have only one X  chromosome, whereas females have two, which provides a backup in case one is defective.
•  Female Carriers: Women can be carriers of the hemophilia gene, possessing one normal X  chromosome and one X chromosome with the defective gene. While they may not show  symptoms, they can pass the gene on to their children. 
• New Mutations: In some instances, hemophilia can arise without a family history, caused by  a spontaneous mutation in the gene responsible for clotting factor. 

Symptoms 

The signs and symptoms of hemophilia differ based on the level of clotting factors in the blood.  If your clotting factor levels are mildly reduced, you may only experience bleeding after surgery  or injury. However, if the deficiency is severe, you may bleed easily, even without any obvious  cause. The symptoms include: 

• Excessive Bleeding 
• Frequent Nosebleeds 
• Easy Bruising 
• Joint Pain and Swelling 
• Blood in Urine or Stool 
• Unusual Bleeding After Surgery or Dental Work 
• Spontaneous Bleeding 

Risk Factors 

• Individuals with hemophilia are at risk of severe bleeding, even from minor injuries or  medical procedures, which can lead to life-threatening blood loss.  
• Internal bleeding into joints can cause chronic pain, swelling, and permanent joint damage,  leading to reduced mobility and potential disability. 
• Spontaneous internal bleeding in muscles, soft tissues, or vital organs can also occur, with  brain bleeds being particularly dangerous, potentially resulting in neurological damage or  death.  
• Repeated bleeding episodes and the use of blood products for treatment can increase the  risk of infections.  
• Surgery or dental procedures are more complicated due to difficulty controlling bleeding.
• Some treatments may cause allergic reactions or lead to the development of inhibitors,  which make treatment less effective. Proper management and medical care are essential to  minimize these risks. 

Diagnosis of Hemophilia 

Diagnosing hemophilia generally involves a combination of medical history, physical exams and  laboratory tests: 

• Medical and Family History: The doctor will inquire about any bleeding symptoms, past  bleeding episodes, or a family history of hemophilia or other bleeding disorders. This  information can provide initial clues to the possibility of hemophilia. 
• Physical Examination: The doctor will perform a physical exam to check for signs of  bleeding, such as bruising or joint swelling, which may suggest hemophilia.

​ Blood Tests: Key tests for diagnosing hemophilia include: Activated Partial Thromboplastin Time (APTT): This test measures how long it takes for  blood to clot, with a prolonged APTT potentially indicating a clotting factor deficiency. • Clotting Factor Assays: These tests measure the levels of specific clotting factors (such  as Factor VIII for Hemophilia A or Factor IX for Hemophilia B). Low levels confirm a  hemophilia diagnosis. 

Platelet Count: This test helps rule out other bleeding disorders. 

• Genetic Testing: In some cases, genetic testing may be performed to identify the specific  mutation causing hemophilia. This can also help determine the severity of the condition  and provide useful information for family planning. 

Treatment Methods 

Hemophilia treatment focuses on managing and preventing bleeding by replacing missing  clotting factors. Key options include: 

• Clotting Factor Replacement: Infusions of Factor VIII (Hemophilia A) or Factor IX  (Hemophilia B), given on-demand or prophylactically to prevent bleeding.  
• Desmopressin (DDAVP): Used for mild Hemophilia A to release stored Factor VIII.
• Antifibrinolytics: Medications that prevent blood clots from breaking down too quickly,  used alongside factor replacement. 
• Physical Therapy: Helps maintain joint function, especially after joint bleeds.
• Gene Therapy: Experimental treatment aimed at providing a long-term solution by  introducing a healthy gene. 
• Pain Management: Non-NSAID pain relief for joint or internal bleeding.
• Emergency Care: Immediate factor replacement and hospitalization for severe bleeding. 

Treatment plans are tailored to the severity of the condition and individual needs, with regular  medical monitoring. 

Challenges Faced by People with Hemophilia 

While treatment for hemophilia has improved, individuals still face several challenges, including: 

• High Treatment Costs: Ongoing factor infusions and medications can be expensive,  especially for those who need frequent treatments. 
• Joint Damage: Frequent bleeding into the joints can result in long-term damage and  arthritis, requiring continuous care and management. 
• Psychosocial Challenges: The limitations of the condition and the need for frequent  hospital visits can cause emotional stress. Support groups and counseling can be beneficial  in coping with the psychological impact of hemophilia. 

Diagnosis at Medivision 

At Medivision, we offer a variety of tests to diagnose and manage hemophilia. These include: 

• Complete Blood Count (CBC) which evaluates overall blood health and platelet count,  providing insights into bleeding disorders.  
• Activated Partial Thromboplastin Time (APTT) test measures how long it takes for blood to  clot, often being prolonged in hemophilia cases due to a clotting factor deficiency. 
• Prothrombin Time (PT) test also assesses clotting time and can help identify clotting  abnormalities, although it is typically normal in hemophilia.  
• Clotting Factor Assays identifies which clotting factor (like factor VIII or IX) is missing or low. 

These tests assist healthcare professionals in diagnosing hemophilia, monitoring its progression,  and tailoring appropriate treatments.

Conclusion 

Hemophilia is a serious condition that, while manageable with ongoing care and attention,  requires careful monitoring. Thanks to modern treatments, people with hemophilia can lead  relatively normal lives. However, it is crucial for those affected to have the right support, access  to healthcare, and make necessary lifestyle adjustments to effectively manage their condition. 

Raising awareness, fostering education, and supporting research into new treatments and  potential cures are all vital for enhancing the lives of those living with hemophilia. By gaining a  deeper understanding of hemophilia, we can help create a more inclusive and supportive  environment for individuals affected by this bleeding disorder.