Hemophilia is a rare genetic disorder that affects the blood’s ability to clot. Hemophilia is categorized into two main types: hemophilia A and hemophilia B. Hemophilia A is caused by a deficiency of clotting factor VIII, while hemophilia B is caused by a deficiency of clotting factor IX. This clotting can lead to bleeding episodes, joint damage, and other complications.
Treatment for hemophilia involves replacing the missing clotting factor with intravenous infusions of clotting factor concentrates. These infusions can help prevent and control bleeding episodes and reduce the risk of complications associated with hemophilia. There is a need for increased awareness and education about hemophilia in India, improved access to diagnostic facilities and treatment, and increased support for people with the condition and their families.
THE CLOTTING FACTORS
Clotting factor VIII and clotting factor IX are proteins in the blood that are essential for normal blood clotting. The liver makes these proteins, which then go through the bloodstream.
Clotting factor VIII
This is also known as the antihemophilic factor (AHF), and its deficiency leads to hemophilia A, which is a type of bleeding disorder. Hemophilia A is characterized by prolonged bleeding after injury, surgery, or dental work, and can lead to joint damage, chronic pain, and other complications.
Clotting factor IX
This is also known as the Christmas factor, and its deficiency leads to hemophilia B, which is another type of bleeding disorder. Hemophilia B is also characterized by prolonged bleeding after injury, surgery, or dental work, and can lead to joint damage, chronic pain, and other complications similar to hemophilia A.
Clotting factor concentrations can be produced using recombinant DNA technology or human plasma. With the advancement of technology, recombinant clotting factor concentrates are preferred due to the lower risk of infection and ease of production.
The incidence of Hemophilia
Globally, hemophilia A affects approximately 1 in every 5,000 male births, according to the World Federation of Hemophilia. India has a high incidence of hemophilia, with an estimated 17,000 people living with the condition. The actual number of people with hemophilia in India may be higher, as many cases may go undiagnosed due to a lack of awareness, limited access to healthcare, and inadequate diagnostic facilities in rural areas. While there is limited data on the incidence of hemophilia in India, the Federation estimates that the country has approximately 1 in 5,000 male births with hemophilia A and 1 in 30,000 male births with hemophilia B.
Joint damage is one of the most significant complications of hemophilia A. Repeated bleeding into the joints can cause pain, stiffness, and limited mobility. Over time, this can lead to arthritis and other joint problems. According to the National Hemophilia Foundation, joint damage is the leading cause of disability in people with hemophilia. It is estimated that up to 90 per cent of people with severe hemophilia will experience joint damage at some point in their lives. Early treatment is not only important for managing joint damage, but it can also improve the overall quality of life for people with hemophilia A. Bleeding episodes can be painful and disruptive, and frequent hospital visits and medical interventions can be stressful for both patients and their families.
Early treatment is critical
Early treatment can help reduce joint damage in severe cases of Hemophilia A. A recent study, published in the journal Blood Advances, followed a group of patients with severe hemophilia A for up to ten years. The study found that those who received early treatment had less joint damage and a better quality of life than those who received delayed treatment. Clinical evidence clearly indicates that early treatment with prophylaxis may be critical in preventing joint damage and maintaining long-term joint health in patients with severe hemophilia A.
Prophylaxis treatment to reduce joint damage
Prophylaxis is a treatment that involves regularly infusing clotting factors into a patient’s bloodstream to prevent bleeding episodes. Patients who started prophylaxis before the age of five had less joint damage than those who started later. It is also found that patients who adhered to their prophylaxis regimen had less joint damage than those who did not. Thus, it is emphasized that consistent treatment in managing hemophilia A is very critical. By starting prophylaxis early and adhering to treatment, patients can avoid many of these complications and maintain a better quality of life. They can participate in physical activities, attend school, and pursue their interests and goals without worrying about bleeding episodes or joint damage.
It is prudent to note that early treatment is not a cure for hemophilia A. Patients will still require ongoing treatment and monitoring throughout their lives. However, by starting prophylaxis early and adhering to treatment, patients can significantly reduce their risk of joint damage and other complications.
Awareness is the key
It is essential to raise awareness about hemophilia A and the importance of early treatment. People with hemophilia A and their families should be educated about the condition, its complications, and the available treatment options. With early intervention and consistent treatment, people with hemophilia A can live full and active lives without the burden of joint damage and other complications.
Despite the high incidence of hemophilia in India, there are many challenges that people with the condition face, including a lack of access to diagnostic facilities and treatment, limited awareness and understanding of the condition among healthcare professionals and the general public, and social stigma and discrimination. By working together, healthcare professionals, policymakers, and advocacy groups can help to improve the lives of people with hemophilia in India and ensure that they receive the care and support they need.
(This article is authored by Dr Vivek Mahajan, Senior Consultant, Orthopedic and Joint Replacement Surgeon at Indian Spinal Injuries Centre)
https://pubmed.ncbi.nlm.nih.gov/36265129/ (Study Ref)