2026-10-11T08:42:41Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33971524 2026-09-23T07:06:01Z category_7 portal_147 item_type_3 month_year_09_2026

Supplemental Material for: A case report of Pearson Syndrome: Addressing the Complexities Beyond Anemia figshare admin karger (2628495) Niladri Das (20091375) Haseena Sait (14668218) Anshima Singh (5573576) Rajesh Kumar Maurya (25094979) Vishakha Gupta (9444131) Kausik Mandal (11013252) Medicine Medicine <p dir="ltr">Introduction: Pearson syndrome is a mitochondrial deletion disorder typically presenting as transfusion-dependent sideroblastic anemia with varying involvement of different cell lines, along with multisystem involvement during infancy. This fatal condition requires a high degree of clinical suspicion due to its phenotypic heterogeneity.</p><p dir="ltr">Case presentation: We present the case of an8-month-old infant with sideroblastic anemia and thrombocytopenia, initially showing a negative whole-exome sequencing (WES) result from peripheral blood. Bone marrow reexamination revealed additional findings, including vacuolization of erythroid and myeloid precursors. With clinical suspicion of Pearson syndrome, analysis of the mitochondrial genome in WES data identified a novel 4.9Kb mitochondrial DNA deletion (m.8482_13477del4996) covering the COX3, ND3, ND4, ND5, ATP6, and ATP8 genes, with subsequent multisystem involvement confirming the diagnosis. </p><p dir="ltr">Conclusion: This case underscores the importance of integrating laboratory findings with genetic testing, as focused analysis of the mitochondrial genome in cases of sideroblastic anemia in bone marrow can give a definitive diagnosis of Pearson syndrome.</p> 2026-09-23T07:06:01Z Dataset Dataset 10.6084/m9.figshare.33971524.v1 https://figshare.com/articles/dataset/Supplemental_Material_for_A_case_report_of_Pearson_Syndrome_Addressing_the_Complexities_Beyond_Anemia/33971524 CC BY 4.0