CASE REPORTSFamilial macro thrombocytopenia: role of genetics where morphology failsChaudhary, Himanshia; Jindal, Ankura; Guleria, Sandesha,b; Sharma, Saniyab; Sachdeva, Man U.S.b; Ahluwalia, JasminabAuthor Information aPediatric Clinical Immunology and Rheumatology Unit, Department of Pediatrics, Advanced Pediatric Centre bDepartment of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India Correspondence to Prof Jasmina Ahluwalia, MD, Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Tel: +91 0172 2755129/+91 708 700 8129; fax: +91 0172 744401; e-mail: email@example.com, firstname.lastname@example.org Received 13 January, 2020 Revised 17 March, 2020 Accepted 19 April, 2020 Blood Coagulation & Fibrinolysis: July 2020 - Volume 31 - Issue 5 - p 333-334 doi: 10.1097/MBC.0000000000000923 Buy Metrics Abstract Myosin heavy chain 9 (MYH9)-related disorders are rare inherited platelet disorders that are accompanied by a wide variety of systemic abnormalities. The persistent thrombocytopenia is usually asymptomatic and these patients are often misdiagnosed and treated as immune thrombocytopenia. MYH9 gene has been studied in association with solid organ malignancies. We report a young girl with family history of thrombocytopenia and hearing loss who presented with kidney dysfunction and later developed acute lymphoblastic leukemia. She lacked the characteristic inclusion bodies in her blood granulocytes, however a diagnosis of MYH9-related Epstein syndrome was confirmed on genetic testing. In the background of known causal association of MYH9 gene in solid organ malignancies, the role of MYH9 gene variant in malignant transformation in the index case remains conjectural. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.