Hemophilia is a rare, sex-linked congenital bleeding disorder caused by a mutation in the genes responsible for production of coagulation factor VIII (hemophilia A) or factor IX (hemophilia B), resulting in the inability of blood to clot. According to Stonbraker et al., hemophilia occurs in approximately 1 in 10,000 births, with hemophilia A being more common, representing 80-85% of cases [1,2]. Additionally, the World Federation of Hemophilia (WFH) estimates that approximately 1,125,000 people worldwide are living with hemophilia, 75% of whom live in developing countries [3,4] and that the management of this disease is both complex and costly due to its clinical manifestations, mainly bleeding episodes, which can be spontaneous or induced by trauma. These complications mainly affect joints and muscles, leading to severe pain, joint damage, limitation of movement, disability and sometimes death [5]. However, this is not the case in developing countries, although appropriate management is essential to minimize and prevent long-term morbidity [6], the implementation of hemophilia care in sub-Saharan Africa (SSA) is particularly challenging, as the disease is not recognized as a national health priority in many countries [7]. In developed countries, Hemophilia Treatment Centers (HTC) are well-structured, comprising well-equipped laboratories, comprehensive care units, and adequately trained personnel. Additionally, clotting factors are readily accessible, allowing patients to begin prophylactic care early in life, which prevents many severe complications. Studies examining the long-term effects of prophylaxis show that patients on early and continuous prophylactic treatment experience fewer bleeding episodes, less joint damage, and improved mobility compared to those on-demand treatment. As a result, individuals with severe hemophilia on lifelong prophylaxis report a quality of life closer to their peers without hemophilia and better than those who started and abandoned treatment [6]. In Cameroon, it was estimated in 2014 that approximately 1,800 people living with haemophilia (PLHIV), but only approximately 100 were diagnosed and registered [8]. Challenges in the management of PLWH include not only the multidisciplinary and costly nature of care, but also the identification and diagnosis of affected individuals. While specific tests for coagulation factors were available for diagnosis in the 1980s and 1990s, efforts have been difficult to implement due to rising costs and low demand. Few studies on the epidemiological, clinical and biological characteristics of PLWH have been conducted in Cameroon, with just over 210 cases diagnosed and registered to date [8]. Furthermore, prophylaxis has recently been introduced, but no study has yet assessed the quality of life (QoL) of haemophiliac patients. The main objective of this study is to assess the quality of life of PLWH at the Yaoundé Hemophilia Treatment Center (YHTC) to contribute to optimizing the care of hemophilia patients.

Study design

This study was a descriptive, cross-sectional investigation conducted over five months, from January 2022 to May 2022, at the YHTC within the Hematology and Blood Transfusion Service of the Yaoundé University Teaching Hospital. The HTC, established in 2009, follows up with over 210 persons living with hemophilia (PLWH).

Study population

The study population consisted of individuals diagnosed with hemophilia and followed up at the HTC, identified through prolonged activated partial thromboplastin time (APTT) tests. Participants were divided into two groups: those on prophylaxis and those on-demand treatment. To be included in the study, patients needed a confirmed diagnosis, regular follow-up at the HTC, and a willingness to participate. For the prophylaxis group, patients also had to be on treatment for at least six months, while the on-demand group included patients not receiving prophylactic treatment. Patients with other chronic or systemic diseases, or incomplete data, were excluded from both groups.

Data collection

A consecutive sampling method was used to recruit participants. Based on previous research, a sample size of 52 participants was determined, with 26 patients required for each group. This calculation assumed differences in quality of life (QoL) scores between patients on prophylaxis and those on-demand treatment. Data collection involved administering a structured, pretested questionnaire. Clinical records were verified to ensure participants met the inclusion criteria. The EQ-5D questionnaire, previously used in hemophilia studies and recommended by the World Federation of Hemophilia, was used to assess QoL. This tool evaluates five dimensions: mobility, self-care, usual activities, pain/discomfort, and anxiety. Participants also rated their perceived health on a Visual Analogue Scale (VAS) ranging from 0 (worst) to 100 (best).

For adult participants, QoL data were converted into an EQ-5D utility index score using the EQ-5D-5L Crosswalk Index Value Calculator. Since no EQ-5D data was available for Cameroon, data from Zimbabwe were used as a proxy. QoL scores were categorized as poor (less than 0.6 or 60%), moderate (0.6 to 0.8), or good (above 0.8).

Data analysis

Data was entered into Microsoft Excel and analyzed using R version 4.0.2 software. Qualitative data were expressed as frequencies and percentages and presented in charts or tables. Quantitative data were reported as means with standard deviations. Comparisons of continuous data between groups were made using non-parametric tests (Mann-Whitney U), while associations between qualitative variables were analyzed using chi-square or Fisher’s exact test. The significance level was set at 5%. The variables of interest included socio-demographic data (age, sex, residence, ethnic group, marital status, profession, comorbidities, religion, and education level), clinical characteristics (type and severity of hemophilia, initial presentation symptoms, site and frequency of bleeding, treatment type, and presence of inhibitors), and QoL data from the EQ-5D and EQ-5D-5L questionnaires.

Ethical approval

Administrative and ethical approvals were obtained from the Yaoundé University Teaching Hospital and the Ethics Committee of the Faculty of Medicine and Biomedical Sciences (FMBS). Participants were recruited either during visits to the HTC or through phone calls facilitated by the Cameroon Hemophilia Association. Informed consent was obtained from each participant, and they were provided with detailed explanations about the research. They were assured of their right to withdraw at any time without affecting their medical care. Finally, confidentiality was maintained during data collection, management, and analysis, and results were shared with participants at the end of the study.

Forty-three (43) male participants within the age of 2 to 40 years were recruited for the study. However, two children under the age of 4 were excluded, leaving 23 children and 18 adults for the final analysis. The majority (88.4%) resided in Yaoundé, and most had at least secondary education. Roman Catholicism was the predominant religion among participants (Table 1).

The mean age at diagnosis of symptom was 4.9 years. Mucosal bleeding other than circumcision was the most common initial symptom at diagnosis (51.2%), followed by circumcision-related bleeding (39.5%). At the time of recruitment, joint pain was the most frequently reported complaint (53.5%), and nearly half of the participants (46.5%) experienced more than five bleeding episodes per year. Most participants (67.4%) were on on-demand treatment, while only one had clotting factor inhibitors (Table 2). The mean duration of treatment for those on prophylaxis was 1.71 ± 1.93 years.

Severe hemophilia was present in 76.7% of patients, with Hemophilia A being more prevalent (88.4% of patients). Patients on prophylaxis tended to be diagnosed earlier than those on on-demand treatment, and the most frequent complaints at recruitment differed significantly between the two groups (Table 3). The majority of participants on prophylaxis were receiving emicizumab (78.6%), while the rest (21.4%) were on coagulation factors.

Regarding quality of life (QoL), adult participants had an average Visual Analogue Scale (VAS) score of 67.6, and an average EQ-5D utility index score of 0.72. Self-care and usual activities had the highest number of participants reporting no problems (88.9% and 61.1%, respectively). However, mobility and pain had the highest reported levels of disability (Table 4). Using the Blom cut-off scale, 50% of adults had a good QoL, 33.3% moderate, and 16.7% poor. Though there were no significant differences between those receiving prophylaxis and on-demand treatment, adults on prophylaxis had slightly better QoL scores.

For children, the average VAS score was also 67.6. In the categories of self-care, pain, and anxiety, more than half reported no problems (69.6%, 52.2%, and 69.6%, respectively), while "usual activities" had the highest report of extreme disability (Table 6). Although no significant differences were found between children on prophylaxis and those on on-demand treatment, children on prophylaxis had a slight, though not significant, improvement in VAS scores (Table 7).

Overall, the mean VAS score for all participants was 67.6, indicating a moderate quality of life. The comparative analysis between patients on prophylaxis and those on on-demand treatment showed no statistically significant difference, with VAS scores of 72.1 and 65.3, respectively.

In recent years, the quality of life (QoL) of patients with hemophilia has garnered increasing attention from the research community [9,10]. The EQ-5D is one of the most widely used instruments for assessing QoL across various medical conditions [11]. This study evaluated the QoL of patients living with hemophilia at YHTC using the EQ-5D-5L and EQ-5D-Y questionnaires. It is the first study in Central Africa, and likely in Africa, to utilize this tool.

Socio-demographic and clinical profile

The study consisted of 43 male participants with an average age of 17.3 years, confirming the sex-linked recessive nature of hemophilia. Hemophilia is rarely found among African women. Previous studies conducted by Tagny et al. in Cameroon, Diop et al. in Senegal, and Hazewinkel et al. in South Africa reported similar ages and gender distributions [8,12-14]. The education levels of our participants were similar to the general population, as noted by Nzometia et al. [15].

Clinically, 38 of the 43 participants (88.4%) had hemophilia A, which aligns with the findings of Nzometia et al. in Cameroon, who reported that 85% of living patients had hemophilia A [15]. This predominance has also been reported in other African studies, such as by Mba et al. in Nigeria [16,17]. However, the distribution of hemophilia severity varies, with severe forms predominating in Cameroon (Central Africa) and South Africa [14], but not in West Africa [13].

The mean age at diagnosis was 4.9 years, with circumcision-related bleeding being the second most frequent initial sign. These findings can be compared to those reported in France, where the mean age at diagnosis was 7.7 months [18]. This suggests that patients in our context do not immediately seek hospital care following abnormal bleeding. Contributing factors include a lack of awareness about the condition and reliance on traditional medicine, which is still prevalent in Cameroonian culture. Many may attribute bleeding disorders to witchcraft and spiritual causes, thus not attending regular medical facilities for diagnosis.

Quality of life assessment

The QoL of 41 patients (18 adults and 23 children) was assessed. Among adults, approximately 88.9% reported "no problems" with "self-care," and 61.1% reported the same for "usual activities." The average EQ-5D utility index score was 0.72 (± 0.18), indicating moderate QoL according to the Blom cutoff. These results are higher than those reported by Zhang et al. in China, who found an average EQ-5D utility index score of 0.51 (± 0.34) [10]. For children, the majority reported "no problems" in "self-care" (69.6%) and "anxiety" (69.6%), while 30.4% reported difficulties in "usual activities." However, we could not derive an average EQ-5D utility index score for children since the EQ-5D-Y has no established value set. The 5Q-5D-Y evaluates children starting from the age of 4, which led to the exclusion of 2 out of 25 patients and a reduced sample size. The overall average VAS score for all participants was 67.6, classified as moderate QoL according to the Blom cutoff. This score is higher than that reported by Zhang et al. in China, who indicated a lower QoL [10]. The improved QoL may be attributed to the recent introduction of prophylactic treatment for PLWH at YHTC.

Comparing prophylactic and on-demand treatments

Most patients (67.4%) were receiving on-demand treatment, partly due to the lack of active governmental involvement in the care of PLWH in the country. Prophylactic treatment was only introduced in 2017 at YHTC. The results indicated a trend toward increased EQ-5D scores for both adults and children on prophylactic treatment compared to those receiving on-demand treatment. The average VAS score was 72.1 for patients on prophylaxis, compared to 65.3 for those on-demand, findings that align with those reported by Noon et al. in 2012 [19]. The lack of statistically significant differences between VAS scores could be attributed to the limited sample size, as well as the fact that many patients on prophylaxis had existing joint complications prior to treatment initiation.

Study limitations

Our study has several limitations, including the small sample size of only 43 participants, with 88.4% residing in Yaoundé. We could have enrolled more patients from the 210 registered individuals living with hemophilia in Cameroon; however, some live far from the treatment center, complicating communication. Additionally, due to limited research funding, the study was conducted only at YHTC, excluding satellite sites in Douala and Tibati. Another limitation is the absence of an established EQ-5D value set for Cameroon or any Central African country, which could have facilitated the interpretation of QoL for PLWH.

This study highlights the QoL of hemophilia patients in Central Africa, revealing that many experience moderate QoL despite challenges such as mobility issues and pain. The predominance of hemophilia A and severe cases underscores the need for improved access to care and education. Prophylactic treatment shows potential for better QoL compared to on-demand treatment. However, barriers like limited healthcare access and cultural beliefs persist. Future efforts should focus on enhancing treatment accessibility and establishing local QoL metrics to better understand and support patients in this context.

The biological data of the participants used to support the conclusions of this study have been deposited in the archives of the hematology and blood transfusion service of the Yaoundé University Teaching Hospital.

The authors declare that they have no conflicts of interest.

We would like to thank the team of the Hematology and Blood Transfusion Service at the Yaoundé University Teaching Hospital, as well as all the patients who participated in this study. We also extend our gratitude to the World Federation of Hemophilia for funding this research through the World Bleeding Disorders Registry Research Support Program, 2021 edition.