Stem cell transplantation for hemoglobinopathy Vila Real
- PDF / 526,217 Bytes
- 2 Pages / 595.276 x 790.866 pts Page_size
- 38 Downloads / 183 Views
LETTER TO THE EDITOR
Stem cell transplantation for hemoglobinopathy Vila Real Justin Hasenkamp 1 Gerald Wulf 1
&
Joachim Riggert 2 & Wolfram Jung 1 & Hristo Boyadzhiev 1 & Jakob Valk 2 & Lorenz Trümper 1 &
Received: 30 April 2020 / Accepted: 26 August 2020 # The Author(s) 2020
Dear Editor, Hemoglobinopathy Vila Real (HbVR) is a rare congenital disease caused by a hemoglobin beta chain P36H mutation [1, 2]. The hemoglobin variant is associated with increased oxygen affinity, resulting in reduced oxygen delivery to target tissues, painful hypoxic organ damage, and compensatory erythrocytosis. Diagnosis is based on clinical presentation of erythrocytosis with high oxygen saturation and tissue hypoxia, to be confirmed by hemoglobin sequence analysis. Hitherto, therapy of symptomatic patients consists of phlebotomy plus transfusions to alleviate symptoms. We report the case of a 47-year-male diagnosed with HbVR 10 years before in the work-up of erythrocytosis. When the patient experienced progressive pain attacks in the head, testis, and muscles, phlebotomy and transfusions of cumulative 168 erythrocyte concentrates were started, without amelioration in the recent year. As yet, antibodies against red blood cells were not detected to this point of time. Bone marrow transplantation (BMT) was offered to the patient to avoid the long-term complications of transfusion dependency and disease-related end-organ damage [3]. To avoid disease-related ischemic injury and reperfusion events during transplantation, similar to symptoms of sickle cell crisis, but with different pathomechanism, complete blood exchanges were performed before the preparative regimen was started. Following conditioning with thiotepa, fludarabine, and treosulfan, bone marrow from a HLA-matched unrelated
* Justin Hasenkamp [email protected] 1
Hematology and Medical Oncology, University Medicine Goettingen, Robert-Koch-Str. 40, D–37099 Goettingen, Germany
2
Department of Transfusion Medicine, University Medicine Goettingen, D–37099 Goettingen, Germany
donor containing 1.5 × 108 leukocytes/kg body weight (BW) was transfused after depletion of erythrocytes and plasma. Graft-versus-host-disease prophylaxis consisted of anti-thymocyte-globulin, cyclosporin A (CSA), and mycophenolate mofetil. During aplasia, CMV reactivation and a sepsis responded to treatment. Leukocyte engraftment occurred 21 days post-BMT with complete donor chimerism. The patient remained dependent on transfusion for erythrocytes and thrombocytes. Bone marrow investigation on day 27 revealed graft failure suspected to be due to the low cell count in the transplanted product. Fifty-one days post-BMT, we transfused 4.0 × 106 CD34+ cells/kg BW purified from the mobilized peripheral blood stem cells of the original donor. From day 8 after the stem cell boost, the patient was transfusion independent and the reticulocytes rose with continuous complete donor chimerism. Further complications post-BMT resembled typical sickle cell complications: seizures and visual impairments
Data Loading...
