A young boy and his father listen to an information session about proposed low-dose prophylaxis treatment at a clinic operated by the Pakistan Hemophilia Patients Welfare Society in Lahore, Pakistan, which is supported by the World Federation of Hemophilia.
By Christopher Florentz
Not many genetic disorders have made as much progress in care over the past half century as hemophilia, a bleeding disorder that prevents the blood from clotting properly and that is characterized by uncontrolled bleeding in different areas of the body.
Yet, while the typical life expectancy for boys born with severe hemophilia who receive proper treatment has increased from approximately 20 years to normal life expectancy, it is small consolation to parents in developing countries who have lost a child to the disorder, for which there is no cure.
Mathieu lives in Senegal. He is one of those parents who lost a child to hemophila. When his 5-year-old son began bleeding profusely, Mathieu said he didn’t know about hemophilia or what to do. “The disease of blood wasn’t in the culture of the Senegalese,” Mathieu explained. “There are even some doctors who don’t know what hemophilia is.” Still, he took some of the blame for his son’s death on himself.
“I think I was partly responsible for not having dug deeper into the research,” he said. “With my second son, it was only after we went to the hospital that a doctor asked, ‘Is he a hemophiliac?’.” Mathieu told his son’s doctor he didn’t know, whereupon his son was tested, diagnosed with hemophilia, and treatment started. Later, Mathieu learned there were four other people in his village with hemophilia, who didn’t know they had the rare disease.
Doctors frustrated by shortages
Clinicians in developing countries who are on the front lines of providing healthcare services continually grapple with obstacles to diagnosing and treating individuals with hemophilia, which is estimated to afflict more than 400,000 people worldwide. Common challenges include the lack of experience of lab technicians, shortage of the substances used for testing and a limited number of diagnostic equipment.
Dr. Dora Mbanya is one of those clinicians on the front lines of treating people with bleeding disorders. The professor of hematology at the University of Yaoundé, Cameroon, and consultant hematologist in the Hematology and Transfusion Service, Yaoundé University Teaching Hospital, is all too familiar with the impediments to early diagnosis and effective treatment.
Even though Cameroon’s economy has benefitted from the development of agriculture, roads, railways and industries such as petroleum and timber, a shortage of treatment products and limited experience of treating doctors in managing hemophilia and bleeding disorders is still an ongoing frustration for healthcare providers such as Dr. Mbanya.
“As a physician committed to saving lives, I am particularly driven by the memory of a 9-year-old boy who lived some 300 kilometers from our hemophilia treatment center (HTC) in Yaoundé, Cameroon, “ Dr. Mbanya said. “While playing with friends at school, he fell and knocked his head. A few days later, the boy developed persistent headaches and his mother gave him pain relief medicine.”
Dr. Mbanya went on to explain that the boy’s aunt, who also has a son living with hemophilia, recognized the seriousness of the problem and took him to the HTC in Yaoundé. “When he finally arrived at the treatment center, he went into a coma from brain bleeding. Despite our best efforts, we lost him within 24 hours. My heart felt heavy and very saddened.”
Closing the treatment gap
There are many stories like Dr. Mbanya’s, and Dr. Assad Haffar, World Federation of Hemophilia (WFH) Director of Humanitarian Aid, says the lack of access to treatment and care in developing countries is an urgent and important public health challenge. At the same time, he notes, there is real cause for hope.
“An increasing number of contributors within the global bleeding disorders community have accepted the challenge of providing a sustainable and predictable supply of donated products as a part of our Humanitarian Aid Program,” he says.
For more than 20 years the WFH has been leading the effort to close the gap between developed and developing countries in the level of resources available to diagnose and treat hemophilia. The goal is to provide consistent and predictable access to treatment for all.
According to Dr. Haffar, the WFH has distributed 462 million international units (IU) of clotting factor in 90 countries helping more than 100,000 people since 1996. The WFH also provides a range of integrated care development training programs to ensure the local infrastructure and medical expertise needed to optimize and appropriately use donated products are in place.
“With increased multi-year donations and a steady flow of treatment products to the WFH network,” Dr. Haffar said, “it will be possible for people with bleeding disorders in the developing world to have continued access to treatment for emergency situations, acute bleeds, corrective surgeries and also prophylaxis for young children.”
Dr. Jens Oltrogge, head of global commercial development coagulation at CSL Behring, the first biotechnology company to sign a multi-year agreement to provide coagulation factor donations in support of the WFH Humanitarian Aid Program, praised the WFH for its unflagging commitment to serving those in need.
“The great work by the World Federation of Hemophilia to improve care in developing nations has impacted thousands of patients with bleeding disorders and their families who otherwise might not have received the lifesaving medicines they need.”
Dr. Mbanya acknowledged the WFH aid program with gratitude. “The program has been instrumental in ensuring an uninterrupted supply of clotting factors for persons living with hemophilia in Cameroon,” she remarked. “As Mother Teresa said, ‘the most terrible poverty is loneliness and the feeling of being unloved.’ The people living with hemophilia in Cameroon are neither lonely nor unloved.”