Diagnostic Evaluation of Myelodysplastic Syndromes (MDS) in the Democratic Republic of Congo: A Review of Current Practices and Challenges

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Data may be preliminary. 11 June 2025 V1 Latest version Share on Diagnostic Evaluation of Myelodysplastic Syndromes (MDS) in the Democratic Republic of Congo: A Review of Current Practices and Challenges Authors : Diane Muantama Balimo 0009-0009-0295-2391 [email protected] , Henry Manya Mboni , Chadrack Kabeya Diyoka 0000-0003-2023-0180 , Derrick Bushobole Akiba , Criss Koba 0000-0002-6088-2629 , and Chijindu Nwakama Authors Info & Affiliations https://doi.org/10.22541/au.174962174.40016102/v1 Published Open Journal of Blood Diseases Version of record Peer review timeline 328 views 187 downloads Contents Abstract Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Background and Aim: Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders characterised by ineffective haematopoiesis and an increased risk of progression to acute myeloid leukaemia. In the Democratic Republic of Congo (DRC), healthcare institutions face major diagnostic challenges due to minimal infrastructure, limited access to testing equipment, and a shortage of trained professionals. This study analyses MDS diagnostic practices in the DRC, identifies unmet needs, and proposes strategies for improving early and accurate detection. Methods: A comprehensive literature review was conducted using international databases (PubMed, Google Scholar, and Scopus) alongside local health reports. The research synthesised data from peer-reviewed articles, hospital-based studies, and World Health Organisation (WHO) guidelines, with a focus on MDS diagnosis in sub-Saharan Africa, particularly in the DRC. Results: The findings reveal persistent diagnostic barriers in the DRC, including limited availability of bone marrow aspiration tools, under-resourced laboratories, and a lack of trained hematopathologists. MDS diagnosis largely depends on peripheral blood analysis and basic marrow examinations, leading to frequent underdiagnosis and misclassification. The absence of standardised diagnostic protocols and inconsistent reporting practices further hampers accurate disease identification. Moreover, brown pigmentation in cases of acute myeloid leukaemia can obscure proper diagnosis, underscoring the need for timely and precise detection methods. Conclusion: MDS diagnostic evaluation in the DRC is hindered by systemic and technical limitations, including infrastructure deficits and workforce shortages. Addressing these issues requires strengthening laboratory capacity, expanding access to diagnostic technologies, and investing in specialist training through international collaborations and local educational initiatives. There is an urgent need for a national diagnostic guideline tailored to the DRC’s healthcare context to ensure accurate classification and improve patient outcomes. Diagnostic Evaluation of Myelodysplastic Syndromes (MDS) in the Democratic Republic of Congo: A Review of Current Practices and Challenges Diane Muantama Balimo 1 , Henry Manya Mboni 3 , Chadrack Kabeya Diyoka 2 , Derrick Bushobole Akiba 1 , Criss Koba Mjumbe 2 , Chijindu Nwakama 4. 1. Technical sector of Public Health, Higher Institute of Medical Techniques of Uvira, Uvira, Republic Democratic Congo. 2. Department of Public Health, School of Public Health, University of Lubumbashi, Lubumbashi, Democratic Republic of Congo. 3. Laboratoire de Pharmacognosie, Faculté des Sciences Pharmaceutiques, Université de Lubumbashi, BP. 1825, Lubumbashi, Democratic Republic of Congo. 4. Johns Hopkins University, School of Medicine. ORCID Numbers and Emails of all authors: Diane Muantama Balimo, 0009-0009-0295-2391, [email protected] ; Henry Manya Mboni, 0000-0001-9236-7288, [email protected] ; Chadrack Kabeya Diyoka, 0000-0003-2023-0180, [email protected] ; Derrick Bushobole Akiba, 0009-0006-9178-2969, [email protected] ; Criss Koba Mjumbe, 0000-0002-6088-2629, [email protected] ; Chijindu Nwakama 0000-0003-4954-4917, [email protected] . The corresponding author: Diane Muantama Balimo, ORCID : 0009-0009-0295-2391, [email protected] Background and Aim: Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders characterised by ineffective haematopoiesis and an increased risk of progression to acute myeloid leukaemia. In the Democratic Republic of Congo (DRC), healthcare institutions face major diagnostic challenges due to minimal infrastructure, limited access to testing equipment, and a shortage of trained professionals. This study analyses MDS diagnostic practices in the DRC, identifies unmet needs, and proposes strategies for improving early and accurate detection. Methods: A comprehensive literature review was conducted using international databases (PubMed, Google Scholar, and Scopus) alongside local health reports. The research synthesised data from peer-reviewed articles, hospital-based studies, and World Health Organisation (WHO) guidelines, with a focus on MDS diagnosis in sub-Saharan Africa, particularly in the DRC. Results: The findings reveal persistent diagnostic barriers in the DRC, including limited availability of bone marrow aspiration tools, under-resourced laboratories, and a lack of trained hematopathologists. MDS diagnosis largely depends on peripheral blood analysis and basic marrow examinations, leading to frequent underdiagnosis and misclassification. The absence of standardised diagnostic protocols and inconsistent reporting practices further hampers accurate disease identification. Moreover, brown pigmentation in cases of acute myeloid leukaemia can obscure proper diagnosis, underscoring the need for timely and precise detection methods. Conclusion: MDS diagnostic evaluation in the DRC is hindered by systemic and technical limitations, including infrastructure deficits and workforce shortages. Addressing these issues requires strengthening laboratory capacity, expanding access to diagnostic technologies, and investing in specialist training through international collaborations and local educational initiatives. There is an urgent need for a national diagnostic guideline tailored to the DRC’s healthcare context to ensure accurate classification and improve patient outcomes. Keywords: Diagnosis, Myelodysplastic Syndromes, Haematology and Healthcare. Introduction The hematopoietic disorders known as Myelodysplastic syndromes (MDS) result in ineffective blood cell development along with reduced blood cell counts and different risk of progression to acute myeloid leukaemia (Garcia-Manero 2023). Genetic and epigenetic mutations in haematopoietic stem cells underlie these disorders which then cause dysplastic changes to one or multiple cell lines from the myeloid lineage. Doctors face two major clinical hurdles when treating MDS because this disease has diverse diagnostic features along with different patient outcomes (Cazzola and Malcovati 2024). Globally MDS predominantly affects elderly adults because most diagnoses occur in people aged over sixty (Gou, Chen, and Shangguan 2025). Reports of MDS vary between regions mainly because diagnostic systems exist mostly in high-income nations with better diagnostic resources (Gwaza et al. 2024). The diagnostic process requires clinicians to combine information from clinical manifestations with blood results while examining bone marrow slides under the microscope and analysing genetic structures. The WHO classification together with the Revised International Prognostic Scoring System (IPSS-R) requires precise application for proper disease management and prediction of patient outcomes (Lee et al. 2023). Testing and diagnosing MDS occurs sporadically and infrequently in resource-scarce health facilities across the world. Low-income countries experience various barriers that include limited specialist care access and inadequate laboratories and limited access to advanced diagnostic technologies (Kruk et al. 2018). The systemic constraints reduce diagnostic accuracy and hinder proper management of patients and sufficient disease surveillance (Abimanyi-Ochom et al. 2019). The review examines the diagnostic situation for haematologic malignancies throughout the Democratic Republic of Congo (DRC) since diagnostic capacities remain extremely restricted in the country. The evaluation investigates DRC-specific MDS diagnostic practices while analysing their existing challenges in order to provide localised insights. The assessment includes an examination of diagnostic procedures as well as barrier identification and proposes specific diagnostic accuracy enhancement strategies that align with regional realities. Through this review the authors intend to provide support for current ambitions to improve haematological healthcare quality throughout the DRC as well as similar developing nations. Methods The research conducted a structured database search to gather relevant information. Three research databases, PubMed, Scopus, and Google Scholar, were searched using combinations of search terms including “myelodysplastic syndromes” with “diagnosis” and “sub-Saharan Africa” and “Democratic Republic of Congo” and “haematology” and “resource-limited settings”. Peer-reviewed publications along with hospital-based reports, conference proceedings and relevant documents from the World Health Organisation were considered as eligible literature sources. The study included reports and studies about MDS diagnosis in English or French which addressed global prevalence and diagnosed MDS cases in sub-Saharan Africa, particularly in the DRC. Publications which dealt with clinical, laboratory and systemic diagnostic approaches were the main focus. The article review excluded works with treatment-only approaches or diagnostic information irrelevant to African settings. Additional effort was made to identify diagnostic-related data relevant to the diagnostic context in DRC. The research obtained grey literature as well as findings from local/ national health institution findings and available case series. The research analysis focused on extracting data related to diagnostic strategies and infrastructure barriers before presenting solutions suitable for resource-constrained environments. Studies from neighbouring countries were employed when specific Congolese data was not available to contextualise diagnostic practices and limitations affecting the regional population. Overview of MDS diagnosis A determination of myelodysplastic syndromes (MDS) requires multiple phases that integrate clinical evaluation, haematological testing, morphological assessment, and genetic analysis. The manifestations of sustained or severe bone marrow failure usually present as non-specific symptoms such as fatigue, pallor, easy bruising, and recurrent infections (Oster, Van de Loosdrecht, and Mittelman 2024). These symptoms result from anaemia, thrombocytopenia, or neutropenia. To diagnose MDS, clinicians begin by evaluating clinical signs and performing a complete blood count (CBC), where cytopenias, macrocytic red blood cells, and reduced reticulocyte counts are typically observed, as shown in Figure 1 (Dotson and Lebowicz 2022). Peripheral blood smears allow for morphological assessment of cells, revealing abnormalities such as hypogranular neutrophils, pseudo-Pelger-Huët anomalies, and macrocytic erythrocytes exhibiting anisopoikilocytosis (Parisi and Bledsoe 2024). However, accurate diagnosis of MDS requires more than peripheral findings alone. Bone marrow aspiration with biopsy remains the gold standard for confirmation. This method enables the evaluation of cellularity, dysplasia in haematopoietic stem cells, and blast percentages—critical for diagnosis and treatment planning (Fenaux et al. 2020). MDS classification depends on both morphological and cytogenetic analyses. Common chromosomal abnormalities include deletions of 5q, 7q, and 20q, as well as complex karyotypes. Molecular testing enhances diagnostic precision by detecting gene mutations such as SF3B1, TET2, and ASXL1. While these advanced diagnostics are routinely employed in high-income settings, they are largely unavailable in low-resource environments (van Zyl et al. 2021). MDS subtype identification is guided by the WHO framework, which integrates morphological and genetic findings to distinguish among subtypes. Diagnostic evaluation using the Revised International Prognostic Scoring System (IPSS-R) considers cytopenias, bone marrow blast percentage, and cytogenetic abnormalities (Garcia-Manero 2023). Clinical decision-making incorporates this risk stratification system to guide urgency of intervention and choice of treatment strategy (Sutton et al. 2020). Accurate and timely diagnosis is critical for managing MDS outcomes and preventing disease progression. In the absence of bone marrow examination and cytogenetic testing, diagnoses are often delayed or inaccurate. In resource-limited settings such as the Democratic Republic of Congo (DRC), clinicians primarily rely on CBCs and peripheral blood smears—currently their only diagnostic tools—thereby increasing the likelihood of diagnostic errors and suboptimal clinical decisions (Mbiya, Tumba Disashi, and Gulbis 2020). Figure 1. Diagnostic pathway for MDS Current diagnostic practices in DRC Evaluation procedures for myelodysplastic syndromes (MDS) vary significantly between urban and rural healthcare facilities in the Democratic Republic of Congo (DRC). Urban centres such as Kinshasa and Lubumbashi provide basic diagnostic services, including complete blood count (CBC) testing and peripheral blood smear evaluation under microscopy (Lumbala et al. 2020). Although bone marrow aspiration and biopsy are essential for confirming an MDS diagnosis, these procedures remain scarce in urban areas and are virtually unavailable in rural regions. As a result, MDS diagnosis often relies heavily on clinical judgment, with definitive testing either delayed or replaced by presumptive assessments (Hasserjian, Germing, and Malcovati 2023). The CBC remains the most widely accessible diagnostic tool, typically performed using semi-automated haematology analysers. However, the interpretation of peripheral blood smears is often compromised by a shortage of adequately trained laboratory personnel (Ozkan and Lacerda 2023). Even when laboratory services are available, many are unable to conduct bone marrow evaluations due to a lack of reagents, frequent equipment failures, and limited staff expertise. Cytogenetic and molecular testing are largely unavailable in most laboratories, resulting in significant gaps in both disease classification and risk stratification (Berisha et al. 2020). Many health facilities rely on outdated and improvised diagnostic approaches. Common practices include manual differential counts, poor-quality staining techniques, and inconsistent documentation of diagnostic findings. The existing referral system in the region is disorganised, with healthcare centres often lacking the capacity to perform advanced diagnostics. Consequently, patients are either referred to distant facilities or are forced to discontinue evaluation altogether due to financial constraints (Javaid, Haleem, and Singh 2024). Table 1 illustrates the distribution of essential MDS diagnostic tools across selected hospitals in the DRC, highlighting the general challenges and geographic disparities in diagnostic capacity. The poor state of healthcare infrastructure not only undermines diagnostic accuracy but also contributes to misclassification of MDS and the implementation of suboptimal treatment strategies. Table 1. Availability of MDS diagnostic tools in selected DRC hospitals Complete Blood Count (CBC) Available Occasionally available Reagent stockouts Daily to weekly Peripheral Blood Smear Available Occasionally available Untrained staff, outdated microscopes Occasional Bone Marrow Aspiration Occasionally available Not available Lack of trained personnel, equipment Case-by-case Cytogenetic Testing Not available Not available No infrastructure Not performed Molecular Testing Not available Not available No infrastructure Not performed Challenges to accurate diagnosis Multiple overlapping challenges restrict the capacity to conduct accurate diagnoses of myelodysplastic syndromes (MDS) within the healthcare system of the Democratic Republic of Congo (DRC). Structural limitations, staff shortages, financial constraints, and systemic inefficiencies contribute to diagnostic delays, misdiagnoses, and overlooked symptoms (Phiri, George, and Iseghehi 2024). One of the primary barriers is inadequate infrastructure. Hospital laboratories in many facilities operate with outdated equipment, including basic tools such as bone marrow aspiration kits, microscopes, and centrifuges (Nkengasong, Yao, and Onyebujoh 2018). An unreliable power supply and poor cold chain management for reagent distribution frequently disrupt diagnostic services. Even in facilities with available equipment, poor calibration and lack of regular maintenance reduce test reliability. Public health institutions typically lack cytogenetic and molecular testing capabilities—both essential for modern MDS classification—forcing reliance on external laboratories in neighbouring countries and effectively denying most patients access to these critical diagnostics (Loghavi and Medeiros 2025). A severe shortage of qualified healthcare personnel presents additional obstacles to effective MDS management. Haematologists, haematopathologists, and laboratory technologists with expertise in haematological malignancies are concentrated in a few urban centres and remain scarce nationwide (Platzbecker et al. 2021). More than half of peripheral healthcare workers lack sufficient training to screen for MDS or interpret basic haematological tests. General practitioners often serve as frontline providers but may struggle to distinguish MDS from other conditions such as nutritional deficiencies, infectious diseases, or aplastic anaemia (Williams et al. 2023). Economic barriers further limit diagnostic access. Basic tests like CBCs and blood smears are financially out of reach for many patients, particularly in rural areas where individuals must pay out-of-pocket (Xu et al. 2021). Bone marrow procedures present dual challenges: they are often unaffordable, and the cost of travel to urban centres further discourages access. Advanced diagnostic services, whether in private or NGO-supported facilities, remain inaccessible to most citizens (Bethuel et al. 2021). The absence of national diagnostic guidelines for MDS contributes to inconsistent clinical practices and documentation. The healthcare system lacks a standardised protocol for cancer diagnosis, and MDS-specific statistics are missing from national cancer registries. These systemic deficiencies impede the development of coordinated care pathways, local training programs, and quality assurance frameworks (Cowie et al. 2020). As a result of these compounded issues, patients often experience both misdiagnoses and treatment delays. Without targeted interventions—including national policy development, laboratory infrastructure investment, and workforce training—accurate diagnosis and effective management of MDS in the DRC will remain improbable (Samardzic, Doekhie, and Wijngaarden 2020). Table 2. Barriers to Effective MDS diagnosis in DRC Technical Inadequate lab equipment Inconsistent or inaccurate test results Lack of advanced diagnostics Inability to classify or risk-stratify cases Human Resources Shortage of trained haematologists Misinterpretation of diagnostic findings Limited lab technologist capacity Poor specimen handling and reporting Economic High cost of testing Limited patient access to diagnostics Out-of-pocket payments for referrals Dropout during diagnostic workup Systemic Absence of national guidelines No diagnostic standardisation Poor integration into health information systems Lack of national data and strategic planning Implications of diagnostic limitations The limited availability of diagnostic resources for myelodysplastic syndromes (MDS) in the Democratic Republic of Congo (DRC) creates a range of clinical, social, and economic challenges. MDS treatment is often inappropriate due to clinical misdiagnosis or delayed diagnosis, resulting in prolonged patient suffering and disease progression (Gorak et al. 2023). Patients are frequently treated for conditions such as nutritional anaemia or chronic infections, while the underlying genetic disorder remains undetected. Late identification of high-risk MDS subtypes limits timely intervention, reduces survival rates, and worsens patients’ quality of life (Platzbecker et al. 2021). From a public health perspective, diagnostic limitations also lead to significant underreporting. National health authorities lack accurate data on MDS prevalence, impeding their ability to assess disease burden or allocate resources effectively. The absence of standardised reporting systems and national registries restricts the monitoring of epidemiological trends, the evaluation of interventions, and the development of targeted public awareness campaigns (Gou, Chen, and Shangguan 2025). Patients and their families experience severe social and financial consequences related to MDS. Misdiagnoses often necessitate repeat consultations, redundant testing, and inappropriate treatments, all of which place a heavy financial strain on households with limited resources. The high cost of accessing diagnostics and care in urban centres further compounds this burden. As medical costs rise, families are frequently forced to abandon care or turn to traditional healers (Nilsen et al. 2020). Beyond financial hardship, MDS patients endure psychosocial stress, including anxiety, isolation, and caregiver fatigue—especially in regions where disease awareness is low and support systems are inadequate. Opportunities and Strategic Recommendations Addressing the challenges of myelodysplastic syndrome (MDS) diagnosis in the Democratic Republic of Congo (DRC) requires integrated strategies focused on workforce development, facility improvement, financial efficiency, and regulatory reform. Laboratory technicians, haematologists, and pathologists should be prioritised for capacity-building programs. Collaborations with universities, professional associations, and regional training centres can strengthen local expertise while promoting retention of skilled personnel (Alderwick et al. 2021). Resource-limited settings require cost-effective diagnostic solutions. For instance, point-of-care haematology analysers and digital pathology systems can offer essential diagnostic information while minimising dependence on sophisticated laboratory infrastructure. Innovative models—such as smartphone-based microscopy combined with image analysis software hosted on cloud platforms—have shown promising outcomes in similarly underserved regions (Heidt et al. 2020). International collaboration can further strengthen diagnostic capacity. Technical partnerships with researchers and donor agencies enable technology transfer and procurement of critical diagnostic equipment. These collaborations can also support remote diagnostics through telepathology and help build regional research infrastructure and scientific networks to manage complex clinical cases (Wang and Ran 2021). Standardised care depends on the establishment of national diagnostic protocols tailored to the local context. These protocols must be practical for frontline healthcare workers to implement and aligned with existing referral systems and WHO-endorsed guidelines. They should account for the epidemiological and infrastructural realities of DRC communities (Altare et al. 2020). A standardised system would provide clinicians with structured guidance, reduce variability in practice, and support improved data collection for policy and planning. Conclusion Patient diagnosis of myelodysplastic syndromes (MDS) in the Democratic Republic of Congo (DRC) remains severely constrained by structural deficiencies and economic limitations. Diagnostic challenges contribute to delayed treatment, frequent misdiagnoses, poor patient outcomes, and inaccurate estimates of the national MDS burden. Urgent, coordinated action is needed to establish specialised diagnostic services, including professional training, technology transfer, and the development of context-specific clinical guidelines. Improved access to diagnostic care can be achieved through international partnerships that introduce affordable, scalable diagnostic tools tailored to low-resource settings. Addressing these gaps is essential not only for improving individual patient care but also for strengthening the broader healthcare system with an emphasis on equity. To this end, national and international stakeholders must collaborate to design a diagnostic framework that reflects the realities of healthcare delivery in the DRC while aligning with globally recognised standards in haematological care. Ethical considerations Ethical approval was granted to the study by the Institutional Ethics Committee of the Higher Institute of Medical Techniques of Uvira. The protocol was first presented and explained to the management of the Institutional Ethics Committee of the Higher Institute of Medical Techniques of Uvira. Conflicts of interest None of the authors has any conflict of interest to disclose. Acknowledgements Thank you to Association “Ensemble Face Aux Maladies” “EFM” for the support. Contributions from authors All authors contributed equally to the conception, writing of the manuscript and have approved the final version of this manuscript. Funding This research received no external funding References Abimanyi-Ochom, Julie, Shalika Bohingamu Mudiyanselage, Max Catchpool, Marnie Firipis, Sithara Wanni Arachchige Dona, and Jennifer J. 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Keywords anemia hematology myelodysplastic syndrome Authors Affiliations Diane Muantama Balimo 0009-0009-0295-2391 [email protected] Higher Institute of Medical Techniques of Uvira View all articles by this author Henry Manya Mboni Université de Lubumbashi View all articles by this author Chadrack Kabeya Diyoka 0000-0003-2023-0180 University of Lubumbashi View all articles by this author Derrick Bushobole Akiba Higher Institute of Medical Techniques of Uvira View all articles by this author Criss Koba 0000-0002-6088-2629 University of Lubumbashi View all articles by this author Chijindu Nwakama The Johns Hopkins University School of Medicine View all articles by this author Metrics & Citations Metrics Article Usage 328 views 187 downloads .FvxKWukQNSOunydq8rnd { width: 100px; } Citations Download citation Diane Muantama Balimo, Henry Manya Mboni, Chadrack Kabeya Diyoka, et al. Diagnostic Evaluation of Myelodysplastic Syndromes (MDS) in the Democratic Republic of Congo: A Review of Current Practices and Challenges. Authorea . 11 June 2025. DOI: https://doi.org/10.22541/au.174962174.40016102/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu . 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