title: Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).
abstract: Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. There are two forms of sideroblastic anemia, i.e., congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia. In order to clarify the pathophysiology of sideroblastic anemia, a nationwide survey consisting of clinical and molecular genetic analysis was performed in Japan. As of January 31, 2012, data of 137 cases of sideroblastic anemia, including 72 cases of myelodysplastic syndrome (MDS)-refractory cytopenia with multilineage dysplasia (RCMD), 47 cases of MDS-refractory anemia with ring sideroblasts (RARS), and 18 cases of CSA, have been collected. Hemoglobin and MCV level in CSA are significantly lower than those of MDS, whereas serum iron level in CSA is significantly higher than those of MDS. Of 14 CSA for which DNA was available for genetic analysis, 10 cases were diagnosed as X-linked sideroblastic anemia due to ALAS2 gene mutation. The mutation of SF3B1 gene, which was frequently mutated in MDS-RS, was not detected in CSA patients. Together with the difference of clinical data, it is suggested that genetic background, which is responsible for the development of CSA, is different from that of MDS-RS.
authors.affiliation: Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Ohba
authors.forename: Kazumichi
authors.initials: K
authors.lastname: Furuyama
authors.forename: Kenichi
authors.initials: K
authors.lastname: Yoshida
authors.forename: Tohru
authors.initials: T
authors.lastname: Fujiwara
authors.forename: Noriko
authors.initials: N
authors.lastname: Fukuhara
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Onishi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Manabe
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ito
authors.forename: Keiya
authors.initials: K
authors.lastname: Ozawa
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.forename: Hideo
authors.initials: H
authors.lastname: Harigae
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D018528:ATP-Binding Cassette Transporters / Q000172:deficiency / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000756:Anemia, Sideroblastic / Q000097:blood / Q000145:classification / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D005787:Gene Frequency; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000235:genetics; D054477:Glutaredoxins / Q000172:deficiency / Q000235:genetics; D006306:Health Surveys; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency / Q000235:genetics; D008875:Middle Aged; D033681:Mitochondrial Membrane Transport Proteins / Q000172:deficiency / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics; D010750:Phosphoproteins / Q000172:deficiency / Q000235:genetics; D000072260:RNA Splicing Factors; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000172:deficiency / Q000235:genetics; D016896:Treatment Outcome; D025101:Vitamin B 6 / Q000627:therapeutic use; D055815:Young Adult
chemical_list: C113037:ABCB7 protein, human; D018528:ATP-Binding Cassette Transporters; C516011:GLRX5 protein, human; D054477:Glutaredoxins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D011993:Recombinant Fusion Proteins; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human; C120043:SLC19A2 protein, human; C553226:Slc25a38 protein, human; D025101:Vitamin B 6; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human; D006836:Hydro-Lyases; C022479:pseudouridylate synthetase