X-linked sideroblastic anemia

M. Muramatsu, K. Usuki, K. Izutsu, Y. Yamaguchi, S. Iki, K. Furuyama, M. Kondo, A. Urabe

Research output: Contribution to journalArticlepeer-review


A 20-year-old man presented with microcytic hypochromic anemia (hemoglobin: 9.3 g/dl, MCV: 82.0 fl, MCHC: 29.5 g/dl) and dimorphism RBCs in circulating blood (RDW: 26.8%). Ringed sideroblasts accounted for 29.5% of bone marrow erythroblasts. Iron overload was also observed. Because the patient had a clear family history of anemia, he was given a diagnosis of X-linked sideroblastic anemia. The activity of delta-aminolevulinic acid synthase (ALAS) in bone marrow erythroblasts was low. However, we did not detect mutation of the gene for ALAS. The patient has responded well to a treatment regimen consisting of oral vitamin B6, Fe-chelation therapy, and phlebotomy.

Original languageEnglish
Pages (from-to)593-598
Number of pages6
Journal[Rinshō ketsueki] The Japanese journal of clinical hematology
Issue number7
Publication statusPublished - 1999 Jul
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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