Elsa Angel Rose
Haemophilia, an inherited genetic disorder, impairs the body’s ability to make blood clots, leading to prolonged bleeding, easy bruising, and spontaneous internal bleeding. “If haemophilia is not diagnosed early, repeated internal bleeding can happen, especially in joints and muscles. Over time, this can cause joint damage, stiffness, and long-term pain. In some cases, serious bleeding inside the brain or other organs can also occur, which can be life-threatening if not treated quickly,” informed Dr Mahadeva Swamy B C, Hemato-Oncology consultant at Manipal Hospital. A major obstacle to managing the disease is the gap in diagnosis. Early management can be provided only when there is a timely and accurate diagnosis of patients. “Underdiagnosis of haemophilia is a major concern. Many patients, especially in smaller towns and rural areas, are not diagnosed early or are diagnosed only after repeated bleeding episodes. Many people think excessive bleeding is ‘normal’ or due to weakness,” said Dr Nakul Dilip Tikare, another Haematologist, Manipal Hospital. RECOGNISING EARLY SIGNS OF HAEMOPHILIA “Early signs of haemophilia usually include easy or unexplained bruising, frequent nosebleeds, bleeding that takes a long time to stop after small cuts, injections, or dental work, and bleeding in the mouth or gums. In young children, swelling or pain in joints like knees or ankles can appear once they start crawling or walking, sometimes without any clear injury. Haemophilia is mostly seen in males, but women who carry the gene may also have symptoms such as very heavy periods, long bleeding after delivery, or easy bruising. In children, symptoms often become more obvious as their activity levels increase,” explained Dr Mahadev. When it comes to treatment, the missing clotting factor is replaced through injections or infusions. Newer treatments, including medications and gene therapy, are also emerging. “With proper treatment and regular care, people with haemophilia can lead active and healthy lives,” said Dr Mahadev.
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GOA STRUGGLES WITH EARLY DIAGNOSIS OF HAEMOPHILIA Low awareness is the biggest barrier to managing the disease. Prasad Arolkar, president of Haemophilia Society Goa, shared, “Across Goa, up to 60–80% of haemophilia & other bleeding disorder cases remain undiagnosed due to lack of awareness and poor understanding of genetic testing. Children are being treated repeatedly for ‘normal injuries’, and menstrual bleeding in girls is being ignored or misattributed. Families seek help only after severe complications arise.” Goa does not have a dedicated haematology or comprehensive blood disorders centre. “Patients often need to travel to cities like Mumbai, Pune, Bangalore & Vellore for advanced diagnosis. Advanced tests (Factor VIII/IX levels, vWF panel, Factor XIII) are not routinely available in Goa. Initial tests may be done locally, but confirmatory diagnosis is delayed. Rare disorders (like vWD or Factor XIII deficiency) are frequently missed,” said Prasad. The absence of a known family history is an underappreciated barrier to early diagnosis of haemophilia. Around 30% of cases have no prior family history, so parents do not suspect a genetic disorder when symptoms appear. This is further compounded by financial and access-related barriers, even in Goa, which is relatively better than many states, according to Prasad. He said, “The cost of testing and travel to tertiary centres can delay diagnosis; this cost is often covered by our NGO across Goa. Underdiagnosis in females is critical but often overlooked. Girls with bleeding disorders (such as von Willebrand disease) are often misdiagnosed as having ‘normal heavy periods’.
ADVANCES IN CARE, BUT MANY CASES STILL UNDIAGNOSED IN GOA
There has been clear progress in awareness and treatment infrastructure, but delayed diagnosis and under-recognition continue to remain significant challenges, much like in the rest of India. “There are active efforts to improve awareness, such as CME (Continuing Medical Education) programs and events at Goa Medical College involving specialists and the Haemophilia Society Goa. National campaigns like World Haemophilia Day are also being observed, helping spread knowledge among doctors and the public,” shared Prasad. Goa now has a dedicated haemophilia treatment centre at GMC (since 2022), which is looked after by Dr Ramnath Nevrekar and Dr Lorraine D’sa, with the best of medicines available for Hemophilia A, B and other bleeding disorders. Basic diagnostic tools (APTT, PT) are available in labs in the Goa Medical College. There are only 80 registered patients, while estimates suggest that there may be around 300 cases in Goa
