Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report

Introduction Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive disorder characterized by severe thrombocytopenia that presents soon after birth and is usually not accompanied by specific somatic malformations [Germeshausen M, Ballmaier M. Best Pract Res Clin Haematol 2021; 34: 101286]. CAMT is more prevalent in females than males [Ballmaier M, Germeshausen M. Semin Thromb Hemost 2011; 37: 673–681; Germeshausen M, Ballmaier M. Haematologica 2021; 106: 2439–2448], in contrast to other congenital bone marrow failure syndromes. Patients with CAMT also exhibit cardiac malformations, cerebel…