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.