Umbilical cord blood transplantation for MYH9-related disorders: a case report and systematic review of the literature

MYH9-related disorders (MYH9-RD) are the leading cause of inherited thrombocytopenia（IPD）. This autosomal-dominant macrothrombocytopenia syndrome consisted of the May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndromes. To date， hematopoietic stem cell transplantation (HSCT) is the only curative therapy for congenital thrombocytopenias, such as Wiskott-Aldrich syndrome(WAS) and Glanzmann thrombasthenia (GT). However, no relevant literature reported on the outcome of MYH9-related disorders. We first described a pediatric MYH9-RD patient who underwent a successful myeloablative allogeneic HSCT with umbilical cord blood stem cells resulting in complete resolution. Now one year passed after HSCT. The patient’s condition remained stable during the follow-up. This case highlights the implications of curative therapy of HSCT in MYH9-RD patients.