Clinical and genetic characteristics of congenital sideroblastic anemia: Comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS)

Rie Ohba, Kazumichi Furuyama, Kenichi Yoshida, Tohru Fujiwara, Noriko Fukuhara, Yasushi Onishi, Atsushi Manabe, Etsuro Ito, Keiya Ozawa, Seiji Kojima, Seishi Ogawa, Hideo Harigae

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1-9
Number of pages9
JournalAnnals of Hematology
Volume92
Issue number1
DOIs
Publication statusPublished - 2013 Jan

Keywords

  • ALAS2
  • Congenital sideroblastic anemia
  • Myelodysplastic syndrome

ASJC Scopus subject areas

  • Hematology

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