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 current 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. Peer-reviewed articles, hospital-based studies and World Health Organization (WHO) guidelines were synthesised, with a focus on MDS diagnosis in sub-Saharan Africa and the DRC. Grey literature, including ministry of health reports and National Laboratory assessments, was also examined. 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 haematopathologists. 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. Misdiagnosis can occur when nutritional deficiencies, such as copper or vitamin B?? deficiency—present with cytopenias and dysplastic changes that mimic MDS. Conclusion: MDS diagnostic evaluation in the DRC is hindered by systemic and technical limitations including infrastructure deficits and workforce shortages. There is an urgent need for a national diagnostic guideline tailored to the DRC’s healthcare context and a tiered diagnostic framework that aligns basic, district-level and tertiary-level investigations. Addressing these issues requires strengthening laboratory capacity, expanding access to diagnostic technologies and investing in specialist training through international collaborations and local educational initiatives.