INTRODUCTION
Hemophilia is a rare genetic bleeding disorder that is caused by a deficiency of lack of blood clotting proteins also known as clotting factors. This disorder however affects mainly the male gender. Hemophiliacs do not have as many clotting factors that should be in their blood, this means that they bleed for a long time than usual after an injury. This condition can also lead to organ and tissue damage. The severity of hemophilia is determined by the amount of clotting factor present in the patient’s blood (Mbanya et al, 2021).
TYPES OF HEMOPHILIA
HEMOPHILIA A (CLASSIC HEMOPHILIA)
This is the most prevalent kind of hemophilia, accounting for 80–85% of cases globally. Males are predominantly affected by this ailment at the highest frequency. The lack of factor VIII antigen (VIII:Ag), a tiny subunit of factor VIII molecules, is the cause of this illness. Because the X chromosome carries this defect, hemophilia A solely affects men and is extremely uncommon in women. Clinically, classical hemophilia is accompanied with bleeding, which can happen internally or externally and also seep into the muscles and joints. Additional signs and symptoms include bleeding following acute trauma or surgery, as well as significant superficial abberations (Mbanya et al, 2021).
HEMOPHILIA B
This is an X chromosome linked condition similar to hemophilia A, characterized by an inherited shortage of clotting factor IX. Five times less people have hemophilia B than hemophilia A. Although hemophilia B is typically a lesser type, clinically it is identical to classical hemophilia (Brooker et al, 2012).
HEMOPHILIA C (FACTOR XI DEFICIENCY)
This can be attributed to insufficient levels of clotting factor XI. The degree of the illness does not correlate with its severity (Ghosh et al, 2021).
ACQUIRED HEMOPHILIA
There is no inherited genetic mutation causing this autoimmune illness. Unusual bleeding in the muscles, skin, or other tissues is the hallmark of this illness, which typically begins after adolescence. The precise reason is still a mystery. The two most prevalent forms of hemophilia in the world are hemophilia A and B (Ghosh et al, 2021).
GENERAL SYMPTOMS OF HEMOPHILIA
The symptoms varies from mild to severe depending on the patient’s level of clotting factors. The main symptoms of hemophilia are uncontrollable bleeding, however, hemophiliacs can also experience
- Pain, swelling, burning or sensation in the joints
- Unexplained bruises due to internal bleeding
- Bleeding gums especially after tooth loss
- Bleeding after circumcision and vaccination
- Frequent nose bleeds (Mbanya et al, 2021).
DIAGNOSIS OF HEMOPHILIA
The globe Federation of Hemophilia estimates that there are 815,100 instances of hemophilia in the globe, of which only 347,026 have a diagnosis and 276,900 of which are severe cases. Because of this, it is typically underdiagnosed, particularly in underdeveloped nations where resources for diagnosis and treatment are scarce.The diagnosis and treatment of hemophilia varies greatly between resource-poor and developed countries; in the former, 81% and 54% of cases are diagnosed, respectively; in the latter, only 8% are diagnosed, and 15% are in South-East Asia. Even within Africa, there are significant differences in hemophiliac care. Compared to sub-Saharan African nations, more patients receive diagnoses in nations like South Africa, Algeria, and Egypt. Timely diagnosis is the norm in developed countries. Clinically, a bleeding disorder is suspected in the face of recurrent hemorrhage, but it must be confirmed through laboratory screening tests which includes
- Partial Thromboplastin Time (PTT)
- Platelets count and platelets function test such as bleeding time and prothrombin time test
- Thromboplastin Generation Test (TGT)
- Prothrombin Consultation Test (PCT)
- Factor VIII assay
Within their diverse communities, the number of hemophiliac cases diagnosed has significantly increased as a consequence of the cooperation and assistance of the World Federation of Hemophilia. For instance, only 225 (9%) of the anticipated 2500 hemophiliacs in Cameroon have received a diagnosis and are being monitored at the Hemophilia Treatment Center (HTC). This is a significant improvement over the 9 cases in 1972, 65 cases in 2003, 166 cases in 2019, and 180 cases in 2021. Thirty-three percent of the 225 cases are hemophilia B, 185 (82.2%) are hemophilia A, and the remaining 10 are FVII inadequacies (2 instances) and Von Willebrand Factor deficiencies (8 cases). A total of 125 cases (55.5%) of severe hemophilia have been reported.
The Hemophilia Treatment Center (HTC) in Mali now has 220 diagnosed and registered patients, of which 150 have hemophilia A (68.2%); 17 have hemophilia B (7.7%); and 29 are just suspected cases. Willebrand disease and other uncommon bleeding diseases account for 24 of the remaining cases (10.9%). Considering that all Mali samples were only sent to international centers for testing in the last few years, there has been a considerable overall evolution. It is still used for hemophilia and inhibitor screening nowadays. Nevertheless, in most low-resource nations, diagnosing von Willebrand’s disease is still difficult (Mbanya et al, 2021).
PREVALENCE OF HEMOPHILIA IN NIGERIA
According to the Nigerian Medical Association (NMA), in Nigeria, there is a paucity of data on the prevalence and characterization of hemophilia, however, the world federation of hemophilia (WFH) estimates that 9,000-12,000 people are living with hemophilia in Nigeria (Ghosh et al, 2021).
MANAGEMENT/TREATMENT OF HEMOPHILIA
Clinical care and follow-up are essential after diagnosis. The international hemophilia federation advises multidisciplinary treatment for hemophiliacs, involving hematologists, pediatricians, dentists, physiotherapists, rheumatologists, radiologists, nurse coordinators, psychologists, and other medical professionals. It should go without saying that cooperation between these team members, the hemophilia treatment facility, the patients and their families, and a working laboratory for clotting factor testing and inhibitor screening is essential. Transfusion therapy, using mostly whole blood, has been the cornerstone of treatment since the 1940s, despite the fact that blood and labile blood products remain rare. But in the 1980s, it was shown that human blood, plasma, and products generated from plasma may spread lethal blood-borne viruses (HBV, HCV, and HIV), to the point where many hemophiliacs became infected with these viruses and most died of AIDS or end-stage liver disease.
In 1984, the successful cloning of the factor VIII gene was a major breakthrough that led to the production of recombinant human factor VIII (r FVIII). Clinical trials were ongoing by 1987 and by 1992 two pharmaceutical companies had licensed rFVIII products for use in hemophilia A. Five years later, in 1997, rFIX (BeneFIX) became available for people living with hemophilia B.
In recent years treatment options have improved to include the treatment of inhibitors to FVIII or FIX as well as prophylaxis. Nevertheless, transfusion of blood and blood components remain the mainstay of managing bleeding patients in most resource-limited settings. The evolution in treatment of hemophilia in the developing world has gone from the use of large quantities of whole blood, which in itself is a scarce commodity, to the use of fresh frozen plasma (Mbanya et al, 2021).
ACCESS DISPARITIES IN THE DIAGNOSIS AND TREATMENT OF HEMOPHILIA
- Care for people with hemophilia in places with limited resources has a number of difficulties, as other authors have also noted. The issues are similar in other nations like Nigeria and include a lack of adequate health care infrastructure (diagnostic laboratories and appropriate management centers) as well as a shortage of personnel resources educated in hemophilia care. Even opening one hemophilia treatment center is a significant accomplishment in the majority of low-income communities.
- Additional difficulties stem from the government’s multiple competing goals for health care in these areas, which prioritize infectious diseases over conditions like hemophilia.
- In addition, there is a dearth of visibility for hemophilia sufferers inside the healthcare system, as well as a lack of knowledge of the illness among the general public, policymakers, and the medical community. Hemophiliacs’ care is hampered by the unavailability of clotting factor concentrates, their poor use when they are, and difficulties with the creation of inhibitors. Hemophiliacs with clotting factor concentrate were shown to have inhibitors in two Cameroonian studies. Hemophilia treatment in situations with inadequate resources is further threatened by the absence of social security and health insurance, either entirely or partially (Mbanya et al, 2021).
IMPROVING DIAGNOSIS AND TREAMENT OF HEMOPHILIA IN NIGERIA
- Developing a patient’s society (National Members Organisation) and a bleeding disorder registry are very important steps towards ensuring adequate treatment for hemophilia in resource-limited settings, as is the case in developed countries. The World Federation of Haemophilia has been instrumental in promoting these in several countries. These patient associations collaborate with the WFH as associate members. They participate actively in sensitizing and mobilising their respective communities towards haemophilia care.
- special training sessions for Laboratories officials and some other medical personnel should be embarked on.
- Government commitment should be sought, to enhance their allocation of budgets for hemophilia care.
- Strategies for promoting the use of safe plasma products through quality management systems and Good Manufacturing Procedures; it will avoid wastages and provide for needs.
- The coordinated delivery of comprehensive care by multidisciplinary teams of healthcare professionals should be encouraged.
- Epidemiological and community-based studies should be promoted, for improved diagnosis of hemophila, as well as the introduction of antenatal diagnostic centres (Mbanya et al, 2021).
CONCLUSION
There is a significant deficiency in most medical centers in Nigeria to adequately diagnose and treat hemophilia patients. Massive funding is required for major Nigerian health facilities in order to provide infrastructure and training required in the proper and effective diagnosis and treatments of hemophiliacs. In addition, effective sensitization and mobilization is also required for the awareness of hemophilia.
World hemophilia day: April 17
REFERENCES
Ghosh, K., Ghosh, K. (2021). Overcoming the challenges of treating hemophilia in resource-limited nations: a focus on medication access and adherence. Expert Rev Hematol.721–730. doi:10.1080/17474086.2021.1957826
Ndoumba-Mintya, A., Diallo,Y. L., Tayou, C. T., Mbanya, D. N. (2023). Optimizing Haemophilia Care in Resource-Limited Countries: Current Challenges and Future Prospects. Journal of Blood Medicine. 141-146.
Nzometia, C. Y., Tagny, C. T., Ndoumba, A. M., Balogog, P. N., Mbanya, D. N. (2017). Assessing the quality of care for haemophilia at the Yaoundé reference treatment Centre of Cameroon. Blood Coagul Fibrinolysis. 176–180. doi:10.1097/MBC.0000000000000549
Pierce, G. F., Adediran, M., Diop, S. (2022). Achieving access to haemophilia care in low-income and lower-middle-income countries: expanded humanitarian aid program of the world federation of hemophilia after 5 years. Lancet Haematol. 9(9):e689–e697. PMID: 36055333. doi:10.1016/S2352-3026(22)00209-5
Stonebraker, J. S., Bolton-Maggs, P. H., Michael, S. J., Walker, I., Brooker, M. (2012). A study of variations in the reported haemophilia B prevalence around the world. Haemophilia. 91–94. doi:10.1111/j.1365-2516.2011.02588.x
World Federation of Hemophilia. Nigeria includes bleeding disorders in national policy and strategic plan. (2023). https://wfh.org/nigeria-includes-bleeding-disorders-in-national-policy-and-strategic-plan/.