title: [X-linked sideroblastic anemia].
abstract: 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.
authors.affiliation: NTT Kanto Medical Center, Hospital, Division of Hematology.
authors.forename: M
authors.initials: M
authors.lastname: Muramatsu
authors.forename: K
authors.initials: K
authors.lastname: Usuki
authors.forename: K
authors.initials: K
authors.lastname: Izutsu
authors.forename: Y
authors.initials: Y
authors.lastname: Yamaguchi
authors.forename: S
authors.initials: S
authors.lastname: Iki
authors.forename: K
authors.initials: K
authors.lastname: Furuyama
authors.forename: M
authors.initials: M
authors.lastname: Kondo
authors.forename: A
authors.initials: A
authors.lastname: Urabe
mesh_terms: D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome