THE EXPRESSION “it runs in the family” is often viewed with optimism but such cannot be said about hemophilia. Hemophilia is an inherited bleeding disorder that will be placed under the spotlight as the country observes National Hemophilia Awareness Month this April.
Blood clotting is an important process that prevents excessive bleeding when our body (e.g. a blood vessel or the skin) is injured. Platelets and proteins (clotting factors) in our plasma (the liquid part of blood) work together to stop the bleeding by forming a clot over the injury.
Hemophilia is a rare, in-born, life-long congenital bleeding disorder that affects mostly males. Individuals with hemophilia are born with a defective gene that prevents their body from producing enough of these proteins and therefore are unable to form a strong and stable blood clot. Patients do not bleed any faster than normal but people with hemophilia can continue to bleed for a much longer time. The World Health Organization (WHO) has said that hemophilia is a lifelong disorder that results in excessive and oftentimes spontaneous bleeding that very often is internal in nature.
The Centers for Disease Control and Prevention (CDC) identified common signs of hemophilia. These are:
• Bleeding into the joints that affects the knees, elbows, and ankles;
• Bleeding into the skin or muscle and soft tissue causing a build-up of blood in the area (called a hematoma);
• Bleeding of the mouth and gums;
• Bleeding after circumcision;
• Bleeding after having shots, such as vaccinations;
• Bleeding in the head of an infant after a difficult delivery;
• Blood in the urine or stool;
• Frequent and hard-to-stop nosebleeds.
The CDC said that replacing the missing blood clotting factor treats hemophilia.
The World Federation of Hemophilia (WFH) estimates that about 10,000 Filipinos have hemophilia, but its latest global survey revealed that only 1,477 of them have so far been identified. Without proper treatment, people with hemophilia can develop permanent damage to joints, muscles, and nerves, as well as bleeding in the brain and major loss of blood that can lead to death. Beyond the physical effects of hemophilia, persons with hemophilia and their families are subject to stress, sadness, and sometimes depression, and therefore need a support system to help them cope.
Aside from appealing to PhilHealth to increase its coverage for hemophilia, the patient groups have called on the government to include hemophilia among the rare diseases covered by Republic Act 10747 or the Rare Diseases Act. Enacted in March 2016, the law aims to improve rare disease patients’ access to comprehensive medical care; set up a Rare Disease Registry to inform policymaking, identify interventions, and design research studies on rare diseases; and promote public awareness on rare diseases, among others.
In the Upper House, Senator Grace Poe filed Senate Bill 2324, which seeks to establish treatment centers for the early detection and treatment of, as well as conduct continuing research on, hemophilia and other bleeding disorders.
A 2016 report of the Pharmaceutical Research Manufacturers of America (PhRMA) outlined the medicines in development for rare diseases, including hemophilia. This list compiled medicines in the pipeline for blood disorders, all in the hope of improving the quality of life of people with hemophilia, among other rare conditions.
Teodoro B. Padilla is the executive director of Pharmaceutical and Healthcare Association of the Philippines (PHAP). Medicine Cabinet is a weekly PHAP column that aims to promote awareness on public health and health care-related issues. PHAP and its member companies represent the research-based pharmaceutical and health care industry.