By Kazuma Morris
The Human Development Index (HDI) is a measurement of a country's overall development and the well-being of citizens. A higher HDI usually indicates better healthcare infrastructure, greater access to services, improved quality of life, an educated medical industry, and investment into treatments and cures for diseases. The HDI serves as a valuable tool for evaluating and comparing the quality and accessibility of healthcare systems in different countries. The United States, Russia, Kenya, and Sudan fall along the spectrum of HDI in a decreasing manner, raising the question of how treatments of rare diseases differ within these nations. We will investigate how each of these counties care for patients with the rare diseases Cystic Fibrosis and Hemophilia.
Cystic fibrosis (CF) is a genetic disorder involving a defective CFTR protein, resulting in the production of thick, sticky mucus in the respiratory and digestive systems. This leads to breathing difficulties, chronic lung infections, and impaired nutrient absorption.
Cystic Fibrosis treatment is the most advanced in the United States, which offers more than 100 CF care centers around the nation. Patients in the US can commonly access vibrating therapy vests in conjunction with bronchodilators, antibiotics, and anti-inflammatory medicine. There are newer drugs such as the CFTR modulator which can improve the functions of the CFTR protein intracellularly. There are also lung transplant surgeries available to replace lungs that have been damaged from mucus build up.
In Russia, while specialized care centers for cystic fibrosis exist, the availability of advanced treatments like gene therapies may be limited. Patients receive standard treatments, including airway clearance techniques, pulmonary medications, and nutritional support. However, access to costly treatments like CFTR modulators could be more restricted due to resource constraints. Russia has only authorized Lumacaftor CFTR Modulators to be available on the market, while the US and European Union have access to all 4 types of modulators.
In Kenya, healthcare resources for cystic fibrosis are limited. The focus primarily revolves around supportive care and symptom management. Patients receive basic respiratory treatments, nutritional support, and physiotherapy techniques to improve lung function and quality of life. There is barely any access to CFTR modulators or any other advanced gene therapies that are available in Europe and North America. CF patients on the continent of Africa can expect to live 20.5 years on average compared to the 50 years in more developed nations.
In Sudan, access to specialized care and advanced treatments for cystic fibrosis is extremely limited. Basic primary healthcare services are provided, including symptomatic relief, nutritional support, and respiratory therapies. However, the availability of specialized clinics, advanced therapies, and novel treatments is scarce. The standard test for detecting Cystic fibrosis, the Sweat Test, was only introduced to Sudan in 2008 in one hospital.
Hemophilia is a rare genetic bleeding disorder that impairs the body's ability to form blood clots, leading to excessive bleeding. It is most often caused by mutations in genes that are responsible for producing blood-clotting proteins known as clotting factors. Spontaneous internal bleeding is very common and can be life threatening.
In the United States, hemophilia treatment has been well researched and is advanced. Patients have access to specialized hemophilia treatment centers, clotting factor replacement therapies, and other supportive measures. Clotting factor replacement involves injecting missing or deficient clotting factor to restore the blood's ability to clot properly. These clotting factors can be derived from blood plasma from the patient. Other treatments such as Emicizumab can improve the functions of existing clotting factors rather than replacing them. Advanced treatments like extended half-life factor concentrates and gene therapies may also be available, improving disease management and reducing bleeding episodes. Half-life factor concentrates for hemophilia work by combining with immunoglobulins to prolong the circulation time of clotting factors in the body, resulting in a slower clearance rate and a longer duration of activity.
In Russia, treatment centers specializing in hemophilia care exist, providing patients with clotting factor replacement therapies. Clotting factor concentrates, such as Factor VIII and Factor IX, are given through intravenous infusions to restore the deficient clotting factors in the blood. However, access to novel and expensive treatments like gene therapies or extended half-life factor concentrates may be more limited due them being costly.
In Kenya, hemophilia treatment is challenging due to limited resources. Patients receive factor replacement therapies to manage bleeding episodes. However, access to advanced treatments, comprehensive hemophilia care, and specialized centers may be limited. There are only two Hemophilia care centers in Kenya; one in Nairobi and one in Mombasa. Efforts primarily focus on basic care, managing symptoms, and raising awareness. Rural Kenya has minimal blood disorder education and often attribute the disease to witchcraft.
In Sudan, specialized care and advanced treatments for hemophilia are almost non-existent. However patients may receive basic factor replacement therapies but inadequate care in local laboratories. 69% of people with hemophilia symptoms are able to get a proper diagnosis and treatment. However, due to resource constraints, the availability of comprehensive care, specialized treatment centers, and advanced therapies is minimal. Blood transfusion services are poor and people often do not get enough medication to combat the disease.
In conclusion, both hemophilia and cystic fibrosis are rare genetic disorders that require specialized medical care to give patients a good quality of life. The availability and accessibility of treatments for these conditions change greatly with differences in Human Development Index number. Countries with higher HDI scores typically have better healthcare systems, greater access to advanced medical technologies, and a stronger infrastructure to support the diagnosis, treatment, and management of rare diseases like hemophilia and cystic fibrosis. These countries may offer comprehensive treatment options, including specialized clinics, advanced therapies, and multidisciplinary care teams. Countries with lower HDI scores may face challenges in providing adequate resources and healthcare infrastructure for individuals with rare diseases.
Investments in medicine are being made globally to improve healthcare access and outcomes for individuals with rare diseases, regardless of HDI ranking. Whether building the first Hemophilia Care Center in Sudan or the US’s attempt to find a cure to cystic fibrosis, the nations are contributing to greater available care for their citizens. Collaborative initiatives and global partnerships aim to address disparities and support better care and treatment options for individuals with any disease.
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