Hemophilia is a genetic disorder that prevents blood from clotting normally, causing bleeding to last longer than usual and, in some cases, occur without a clear cause. This condition can turn what should be minor injuries into serious problems if not treated promptly.
It is estimated that there are around 400,000 people with hemophilia worldwide. With a population of approximately 281 million, Indonesia is estimated to have around 28,000 people with hemophilia. However, according to a June 2024 report by the Indonesian Hemophilia Society (HMHI), only 13% of patients have been diagnosed, or about 3,685 individuals across the country.
Commemorating World Hemophilia Day on April 17, attention to this blood disorder has once again come into focus, particularly due to ongoing challenges in early detection, access to treatment, and equitable healthcare services.
Professor of Molecular Genetics at the Faculty of Biology, Universitas Gadjah Mada (Biology UGM), Professor Niken Satuti Nur Handayani, explained that hemophilia is an inherited bleeding disorder caused by a deficiency in blood clotting factors due to mutations in the F8 or F9 genes, which function as part of the “chain” in the blood clotting process. This disruption prevents normal clot formation.
“As a result, the body has difficulty stopping bleeding, whether external or internal,” said Professor Niken on Thursday (Apr. 16).
She noted that there are two types of hemophilia: hemophilia A and hemophilia B. Hemophilia A results from a deficiency of clotting factor VIII, while hemophilia B results from a deficiency of factor IX.
“Around 85 percent of identified cases are hemophilia A,” she explained.
Furthermore, Professor Niken described that in people with hemophilia, the main issue is not always visible from external wounds but often occurs internally, particularly in joints and muscles. This condition may present as pain, swelling, or stiffness in the joints, especially the knees and ankles, which, if recurrent, can lead to permanent damage and limited mobility.
“Bleeding most frequently occurs within joints and muscle tissues, not just on the surface of the skin,” she said.
She also emphasized that due to its genetic nature, hemophilia predominantly affects males. This is because males have only one X chromosome, so a mutation in that chromosome directly results in the disease. Females, on the other hand, are typically carriers without severe symptoms because they still have one normal X chromosome that supports clotting function.
“Not all cases come from family history, as around 20-30 percent of hemophilia cases can arise spontaneously due to new gene mutations that occur without prior indication,” she added.
Professor Niken further explained that hemophilia is a complex disease, as it involves not just a single genetic aspect but also the highly intricate blood clotting system in the human body. She noted that research in Indonesia still largely focuses on identifying the F8 and F9 genes and on patients’ clinical characteristics, while advanced technologies, such as large-scale genetic testing, remain underused.
“There are still limitations in laboratory facilities and relatively high costs. However, collaboration among universities, hospitals, and patient communities is beginning to show positive progress in expanding understanding of this disease,” she explained.
In addition, Professor Niken highlighted the development of modern therapies, such as gene therapy, which is being pursued in various countries. This therapy aims to introduce normal genes into patients so their bodies can independently produce clotting factors.
“Gene therapy offers new hope that hemophilia can become a much more manageable condition in the future,” she said.
However, this therapy is still in the research stage and cannot yet be widely used due to challenges related to safety, long-term effectiveness, and varying patient responses.
Concluding her remarks, Professor Niken stressed that one of the most common misconceptions in society is the belief that hemophilia is only marked by external wounds that are difficult to stop. In fact, the most dangerous conditions often occur internally and are not immediately visible.
“Internal bleeding in joints and muscles can cause permanent damage if not properly treated,” she explained.
She added that with accurate diagnosis, regular treatment, and proper education for families, people with hemophilia can still lead relatively normal and productive lives.
Writer: Zabrina Kumara
Editor: Gusti Grehenson
Post-editor: Jasmine Ferdian
Photo: Freepik