PMID- 30912988
OWN - NLM
STAT- MEDLINE
DCOM- 20190503
LR  - 20190503
IS  - 1521-0669 (Electronic)
IS  - 0888-0018 (Linking)
VI  - 36
IP  - 1
DP  - 2019 Feb
TI  - Graft failure after reduced-intensity stem cell transplantation for congenital 
      sideroblastic anemia.
PG  - 46-51
LID - 10.1080/08880018.2019.1578844 [doi]
AB  - Congenital sideroblastic anemia (CSA) is a rare hereditary disease causing 
      disorders of hemoglobin synthesis. Severe, progressive congenital sideroblastic 
      anemia becomes transfusion dependent and results in iron overload. In such cases, 
      patients must undergo stem cell transplantation (SCT) before critical organ 
      dysfunction occurs. However, there has been no consensus on the criteria for SCT 
      for congenital sideroblastic anemia. A 17-year-old Japanese boy was newly 
      diagnosed with congenital sideroblastic anemia manifesting dyspnea on effort. His 
      gene analysis revealed ALAS2 R170L. He gradually become dependent on RBC 
      transfusion. Vitamin B6 (pyridoxal, 30 mg/day) therapy and high-dose 
      alpha-linoleic acid supplementation (150 mg/day) had not been effective. We 
      treated the patient with reduced-intensity SCT from a human leukocyte antigen 
      (HLA) alle 8/8-identical unrelated female donor. The preparation regimen applied 
      consisted of cyclophosphamide, fludarabine, total body irradiation (2 Gy), and 
      anti-thymocyte globulin. We experienced secondary graft failure, nevertheless we 
      used enough immunosuppression. Here we discuss the optimal transplantation 
      regimen for an adult-onset congenital sideroblastic anemia patient with 
      transfusion dependency and mild hemosiderosis. We consider a positive indication 
      for SCT in younger (< 20-year-old) patients with congenital sideroblastic anemia 
      with transfusion dependency. Each case should be individually considered for 
      their suitability for SCT depending on the feasibility and the clinical condition 
      of the patient.
FAU - Imataki, Osamu
AU  - Imataki O
AD  - a Division of Hematology, Department of Internal Medicine, Faculty of Medicine , 
      Kagawa University , Kagawa , Japan.
FAU - Uchida, Shumpei
AU  - Uchida S
AD  - a Division of Hematology, Department of Internal Medicine, Faculty of Medicine , 
      Kagawa University , Kagawa , Japan.
FAU - Uemura, Makiko
AU  - Uemura M
AD  - a Division of Hematology, Department of Internal Medicine, Faculty of Medicine , 
      Kagawa University , Kagawa , Japan.
FAU - Kadowaki, Norimitsu
AU  - Kadowaki N
AD  - a Division of Hematology, Department of Internal Medicine, Faculty of Medicine , 
      Kagawa University , Kagawa , Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20190326
PL  - England
TA  - Pediatr Hematol Oncol
JT  - Pediatric hematology and oncology
JID - 8700164
RN  - EC 2.3.1.37 (5-Aminolevulinate Synthetase)
RN  - EC 2.3.1.37 (ALAS2 protein, human)
SB  - IM
MH  - 5-Aminolevulinate Synthetase/*genetics
MH  - Adolescent
MH  - Allografts
MH  - Amino Acid Substitution
MH  - Anemia, Sideroblastic/*congenital/*therapy
MH  - Graft Rejection/*genetics
MH  - Humans
MH  - Male
MH  - *Mutation, Missense
MH  - *Stem Cell Transplantation
EDAT- 2019/03/27 06:00
MHDA- 2019/05/06 06:00
CRDT- 2019/03/27 06:00
PHST- 2019/03/27 06:00 [pubmed]
PHST- 2019/05/06 06:00 [medline]
PHST- 2019/03/27 06:00 [entrez]
AID - 10.1080/08880018.2019.1578844 [doi]
PST - ppublish
SO  - Pediatr Hematol Oncol. 2019 Feb;36(1):46-51. doi: 10.1080/08880018.2019.1578844. 
      Epub 2019 Mar 26.