CASe RePORT Stem Cell Transplant in Severe Glanzmann Thrombasthenia in an Adult Patient Mani Ramzi, Mehdi Dehghani, Shirin Haghighat, Hourvash Haghighi Nejad Abstract Glanzmann thrombasthenia is an inherited auto-somal recessive disorder characterized by normal platelet count but lack of platelet aggregation due to absence of platelet glycoprotein IIb/IIIa. The disease usually is associated with mild bleeding, but severe fatal hemorrhage may occur. Allogeneic stem cell transplant is the only curative method of treatment. A literature search showed 18 previously reported cases of Glanzmann thrombasthenia treated with allogeneic hematopoietic stem cell transplant. We report an 18-year-old woman with severe Glanzmann thrombasthenia who was treated with allogeneic hematopoietic stem cell transplant from her sister. After 24-month follow-up, the patient was well, had no bleeding tendency, and had mild chronic skin graft- versus-host disease. Key words: Graft-versus-host disease, Transplant, Inherited, Glanzmann Introduction Glanzmann thrombasthenia is a rare inherited autosomal recessive disorder characterized by normal platelet count but lack of platelet aggregation due to absence of platelet glycoprotein IIb/IIIa. The clinical course of the disease usually can be mild but sometimes, may be severe and may be characterized by repeated life-threatening hemorrhage, with severity varying between patients. 1 The clinical course may be unpredictable. 2 Therapy is based on supportive care including hemostatic procedures, antifibrinolytic agents, desmo- pressin for minor hemorrhage, and transfusion with packed red blood cells or platelet concentrates for major hemorrhage. 3-5 The main complication of platelet concentrate transfusion is the occurrence of alloimmunization against human leukocyte antigens (HLAs) and the glycoprotein IIb/IIIa complex. In this condition, patients become refractory to platelet transfusions and have a poor prognosis. Allogeneic hematopoietic stem cell transplant for severe Glanzmann thrombasthenia was initially reported in 1985. 6 Since then, hematopoietic stem cell transplant has been reported sporadically. 7-11 A literature search showed 18 cases of Glanzmann thrombasthenia treated with allogeneic hematopoietic stem cell transplant. 12 We report an 18-year-old woman who presented with severe, repeated bleeding. She was treated successfully with allogeneic hematopoietic stem cell transplant in our center from her HLA-matched sister. At 2-year posttransplant follow-up, the patient was well, asymptomatic, and had mild chronic skin graft-versus-host disease (GVHD). Case Report An 18-year-old woman was diagnosed at age 1 year, after gum bleeding, with Glanzmann thrombasthenia. She was referred to our center due to refractory bleeding and frequent hospitalization because of bleeding. She had a history of gastrointestinal bleeding at age 11 years that required blood transfusion for the first time. Since then, she had frequent epistaxis leading to severe anemia and requiring blood and platelet transfusion. During the past several years, she continued to need frequent platelet and blood transfusions, and recently required recombinant factor VII to stop severe and uncontrolled bleeding events. Her bleeding became frequent, and she required many hospitalizations Copyright © Başkent University 2016 Printed in Turkey. All Rights Reserved. From the Hematology Research Center, Department of Hematology, Medical Oncology, and Stem Cell Transplantation, Shiraz University of Medical Sciences, Shiraz, Iran Corresponding author: Mani Ramzi, Professor of Hematology and Medical Oncology, Department of Hematology, Medical Oncology, and Stem Cell Transplantation, Shiraz University of Medical Sciences, Namazee Hospital, Zand Boulevard, Shiraz, Iran Phone: +98 713 647 4301 Fax: +98 713 647 4301 E-mail: ramzim@sums.ac.ir Experimental and Clinical Transplantation (2016) 6: 688-690 DOI: 10.6002/ect.2014.0165