Case report highlights the cytogenetic analysis and clinical characteristics of MDS in India, suggesting regional differences.
Abstract Background Myelodysplastic syndromes (MDS) represent clonal hematopoietic disorders that are marked by ineffective hematopoiesis, peripheral cytopenias, and a fluctuating risk of progression to acute myeloid leukaemia. Research conducted in India has revealed an earlier age of onset and a greater prevalence of adverse cytogenetic profiles in comparison to Western populations; however, comprehensive case-based documentation is still lacking. Case Details: We report a case of a 58-year-old male farmer from Guntur District, Andhra Pradesh, who experienced progressive dyspnea, fatigue, recurrent low-grade fever, gum bleeding, and spontaneous bruising. Examination revealed pallor, petechiae, and mild splenomegaly. Laboratory tests showed pancytopenia with macrocytic anaemia, hypogranular neutrophils, and giant platelets. Bone marrow aspiration indicated hypercellularity with multilineage dysplasia, ring sideroblasts, and 6% myeloblasts. Cytogenetic analysis revealed an isolated deletion of chromosome 5q. Based on these findings, a diagnosis of MDS – Refractory Anaemia with Excess Blasts-1 (RAEB-1) was made. The patient was treated with supportive transfusions, empirical antibiotics for febrile neutropenia, and subcutaneous azacitidine. Discussion This case exemplifies the diversity of MDS, consistent with Indian research that indicates an earlier onset and differing prognostic characteristics. It underscores the importance of documenting individual cases to connect epidemiological disparities between Western and Indian populations. Conclusion This case underscores the clinical and cytogenetic characteristics of MDS in an Indian patient, drawing attention to the diagnostic difficulties and treatment considerations in settings with limited resources. Comprehensive regional case reports are crucial for enhancing the understanding of disease biology and outcomes within Indian populations.
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Yanamadala et al. (2025) studied this question.
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