title: Microcytic anemia in a pregnant woman: beyond iron deficiency.
abstract: Sideroblastic anemias are a heterogeneous group of disorders characterized by anemia of varying severity and the presence of ringed sideroblasts in bone marrow. The most common form of inherited sideroblastic anemia is X-linked sideroblastic anemia (XLSA). In many XLSA patients, anemia responds variably to supplementation with pyridoxine (vitamin B6). We describe the case of a pregnant female with XLSA who had a novel mutation on the ALAS2 gene (c.1218G > T, p.Leu406Phe). Oral chelation therapy was contraindicated and high-dose vitamin B6 would have possible side effects in pregnancy. Serum hepcidin level was very low, indicating increased absorption of iron secondary to ineffective erythropoiesis. Therapy was begun with a low dose of pyridoxine that was increased post-partum. The patient's liver showed moderate iron deposits. During a subsequent 3-month period of pyridoxine supplementation, serum ferritin level and transferrin saturation decreased, hemoglobin content and serum hepcidin level normalized, and morphologic red cell abnormalities improved markedly. The patient responded well to treatment, showing the pyridoxine responsiveness of this novel ALAS2 mutation. The baby girl had the same mutation heterozygously, and although she was neither anemic nor showed abnormalities in a peripheral blood smear, she had a mild increment in RDW and her condition is now being followed.
authors.affiliation: Department of Hematology, Complejo Hospitalario de Toledo, Hospital Virgen de la Salud, Avenida de Barber, 30, 45004, Toledo, Spain, noelia_rollon@hotmail.com.
authors.forename: Noelia
authors.initials: N
authors.lastname: Rollón
authors.forename: María Cristina
authors.initials: MC
authors.lastname: Fernández-Jiménez
authors.forename: María Isabel
authors.initials: MI
authors.lastname: Moreno-Carralero
authors.forename: María José
authors.initials: MJ
authors.lastname: Murga-Fernández
authors.forename: María Josefa
authors.initials: MJ
authors.lastname: Morán-Jiménez
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000328:Adult; D000756:Anemia, Sideroblastic / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000628:therapy*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000628:therapy*; D006403:Hematologic Tests; D064451:Hepcidins / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D007501:Iron / Q000097:blood; D019190:Iron Overload / Q000097:blood / Q000150:complications; D009154:Mutation; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000235:genetics* / Q000628:therapy*; D011736:Pyridoxine / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D064451:Hepcidins; D014803:Vitamin B Complex; D007501:Iron; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human; D011736:Pyridoxine