Haematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia (CAT), a rare syndrome with fai lure of megakaryopoiesis, cannot be cured by immunoglobulins, steroids or c yclosporin, but only by allogeneic bone marrow transplantation (BMT). We re port on eight patients with CAT, all of whom were dependent at the time of BMT on platelet transfusion. Sources of haematopoietic progenitor cells wer e bone marrow (n = 5), peripheral stem cells (n = 2) and cord blood (n = 1) . Seven patients engrafted. Both patients with matched unrelated donor tran splants died, six patients are well with stable platelet counts 3-27 months after transplantation. BMT represents a curative option for CAT. The benef it of using alternative marrow donors should be carefully evaluated.