Understanding Hemophilia: Causes, symptoms, and the importance of early diagnosis

Observed on April 17, World Hemophilia Day aims to spread awareness regarding the challenges faced by those living with bleeding disorders. The focus is on timely care and access to treatment, which can help prevent complications in people with bleeding disorders. Early intervention plays a critical role in managing the condition and preventing long-term damage.
Hemophilia is a serious bleeding disorder that can impact a person's life if not diagnosed and managed early. “Haemophilia is a genetic disorder where the blood lacks certain clotting factors, leading to prolonged bleeding. Even minor injuries can cause excessive blood loss, and internal bleeding may occur. The two main types are Haemophilia A (deficiency of factor VIII) and Hemophilia B (deficiency of factor IX). The condition is inherited and passed down through families, mostly affecting boys, while females are the carriers of the gene. Haemophilia is caused by a mutation in one of the genes responsible for producing clotting factors. These mutations prevent the body from producing enough clotting factor proteins, leading to improper blood clotting.”

“The symptoms of it are frequent nosebleeds, easy bruising, bleeding from cuts or injuries, joint swelling, and pain due to internal bleeding. Timely diagnosis is key to managing hemophilia. It is often detected in infancy or early childhood through blood tests that check clotting factor levels. Newborns with a family history should be screened soon after birth. Treatment includes replacement therapy, where the missing clotting factor is injected into the bloodstream. Moreover, apart from medical treatment, physical therapy, and regular monitoring helps in maintaining joint health and overall well-being.”

“Hemophilia can be a lifelong condition, but with the right awareness, early diagnosis, and proper treatment, people can lead normal and fulfilling lives. Many parents are unaware that frequent bruising or prolonged bleeding in a child could be early signs of hemophilia. Common symptoms of hemophilia include frequent bruising, prolonged bleeding, joint pain, and unexplained nosebleeds. Early detection not only helps manage the condition more effectively but also prevents serious complications like joint damage or internal bleeding. With regular care, the risks can be greatly reduced. It is the need of the hour to go for regular check-ups with the doctor to improve the quality of life."

Dr Tushar Rane, Internal Medicine Expert Apollo Spectra Mumbai