Buscar en
Gaceta Médica de Bilbao
Toda la web
Inicio Gaceta Médica de Bilbao Anemias Sideroblásticas
Información de la revista
Vol. 99. Núm. 2.
Páginas 44-48 (Enero 2002)
Compartir
Compartir
Descargar PDF
Más opciones de artículo
Vol. 99. Núm. 2.
Páginas 44-48 (Enero 2002)
Acceso a texto completo
Anemias Sideroblásticas
Sideroblastic anemias
Visitas
72574
A. Cánovas, R. de la Prieta, J.J. Alonso, C. Ruiz, T. Pereira, C. Aguirre
Servicio y Cátedra de Medicina Interna. UPV/EHU. Hospital de Cruces. Barakaldo.
Este artículo ha recibido
Información del artículo
Resumen

En las anemias sideroblásticas el trastorno común a todas ellas es la alteración de la síntesis del hemo en los precursores eritroides de la médula ósea, con depósito de hierro en las mitocondrias constituyendo los denominados sideroblastos en anillo. Las causas son diversas siendo las más frecuentes las adquiridas como alteración clonal de la eritropoyesis formando parte de los síndromes mielodisplásicos. Las hereditarias son raras y afectan sobre todo a varones con una herencia ligada al cromosoma X. Por último hay algunas reversibles como las asociadas al abuso de alcohol y a la ingesta de algunos fármacos. El tratamiento depende de la causa pero en todas ellas es preciso además de controlar la anemia sintomática, prevenir el daño orgánico por la sobrecarga de hierro.

Abstract

The common feature of all sideroblastic anemias is the alteration of hem synthesis in erytroid precursors of the bone marrow; this gives rise to the deposit of iron inside the motochondria, leading to the formation of the so called ring sideroblasts. Causes are diverse though acquired anemias are far more frequent, for example myelodisplastic syndromes which present a clonal alteration of erythoripiesis. Seldom we find hereditary anemias, mostly affecting males, following a pattern of X-linked transmission. Finally we should point some reversible ones, such as the associated with alcohol abuse and some drug intake. Treatment depends on the cause but in every case it is required besides controlling symptomatic anemia to forsee organic damage due to iron overcharge.

Laburpena

Anemia sideroblastiko guztiek trastorno bera dute komunean: hezur-muineko prekursore eritroideetan gertatzen den herm-aren sintesiaren alterazioa, eraztun formako sideroblastoak eratzen dituen mitokondrietako burdina metaketarekin. Kausak askotarikoak badira ere, ohikoenak sindrome mielodiplastikoetako eritropoiesiaren alterazio zional modura hartutakoak dira. Herentziaz hartutakoak oso bakanak dira, eta batik bat X kromosomarekin lotutako herentziaren bat duten gizonezkoei erasaten diete. Azkenik, anemia sideroblastiko itzulgarriak aipatu beharko lirateke, hala nola gehiegizko alkoholaren eta botika jakin batzuen kontsumoarekin lotutakoak. Tratamendua kausaren araberakoa bada ere, ezinbestekoa da haietan guztietan anemia sintomatikoa kontrolatzea, burdina gainkargaregatiko kalte organikoa prebenitzea.

El Texto completo está disponible en PDF
Referencias bibliográficas
[1.]
Bottomley S.S., et al.
Sideroblastic anemias.
Wintrobe's Clinical Hematology, 10, pp. 1022-1045
[2.]
Willey J.S., Moore M.R., et al.
Heme biosynthesis and its disorders.
Hematology: Basic Principles and Practice, 3, pp. 428-445
[3.]
Bottomley S.S..
The spectrum and role of iron overload in sideroblastic anemia.
Ann NY Acad Sci, 526 (1998), pp. 331-337
[4.]
Yaouanq J., Brosbois B., Jovanolle A.M., Goasquen J., Leblay R..
Hemochromatosis CYS282Tyr mutation in piridoxine-responsive sideroblastic anemia.
Lancet, 349 (1997), pp. 1475-1476
[5.]
Cotter P.D., May A., Li L., et al.
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
[6.]
Edgard A.J., Wickramasinghe S.N..
Hereditary sideroblastic anemia due to a mutation in exon 9 of the erythroid 5-aminolevulinate synthase gene.
Br J Haematol, 100 (1998), pp. 389-392
[7.]
Edgar A.J., idyatilake H.M.S., Wickramashighe Sn..
X-linked sideroblastic anemia due to a amutation in the erythroid 5-aminolevulinate synthase gene leading to an arginine 170 to leucine sustitution.
Eur J Haematol, 61 (1998), pp. 55-58
[8.]
Cox T.C., Bottomley S.S., Wiley J.S., et al.
X-linked pyridoxine-responsive sideroblastic anemia due to a thr 388-to-serine substitution in erythroid 5-aminoleulinate sinthase.
N Eng J Med, 330 (1994), pp. 675-679
[9.]
Bottomley SS, Wise PD, Wasson EG et al. The spectrum of molecular defects in the erythroid 5-amonolevulinate synthase gene in hereditary sideroblastic anemia. Blood; 92 (supp1):699a.
[10.]
Raskind W.H., Wijsman E., Pagon R.A., et al.
X-linked sideroblastic anemia and ataxia: linkage to phosphoglicerate kinase at xq13.
Am J Hum Genet, 48 (1991), pp. 335-341
[11.]
Cotter P.D., May A., Fitzsimons E.J., et al.
Late-onset X-linked Sideroblastic Anemia.
J. CI. Invest, 96 (1995), pp. 2090-2209
[12.]
González M.I., Caballero D., Vázquez L., et al.
Allogeneic peripheral stem cell transpalantation in a case of hereditary sideroblastic anemia.
Br J Haematol, 109 (2000), pp. 658-660
[13.]
Olivieri N.F., Brittenham G.M..
Iron chelation therapy and the treatment of thalassemia.
Blood, 89 (1997), pp. 739-761
[14.]
Gattermann N., Retzlaff S., Wang Y.L., et al.
Heteroplasmic point mutations of mitochondrial sideroblastic anemia.
Blood, 90 (1997), pp. 4961-4969
[15.]
Gatterman N., Acul C., Scheneider W..
Two types of acquired idiophatic sidroblastic anemia (AISA).
Br J Haematol, 74 (1990), pp. 141-151
[16.]
Gattermann N., Acul C., Scheneider W..
Two types of acquired idiophatic sideroblastic anemia (AISA).
Br J Haematol, 74 (1990), pp. 45-52
[17.]
Germing U., Gattermann N., Aivado B., Aivado M., Hildebrandt B., Aul C..
Two types of acquired idiophatic sideroblastic anemia (AISA): a time-tested distinction.
Br J Haematol, 108 (2000), pp. 724-728
[18.]
Hellstrom-Lindberg E., Negrin R., Stein R., et al.
Efficacy of erythropoietin in the myelodisplastic sundromes: a meta-analisis of 205 patients from 17 studies.
Br J Haematol, 89 (1995), pp. 67-71
[19.]
List A.F., Brasfield F., Heaton R., et al.
Stimulation of hematopoiesis by amifostine in patients with myelodysplastic syndrome.
Blood, 90 (1997), pp. 3364-3369
[20.]
Silverman L.R., Demakos E.P., Peterson B., et al.
A randomised controlled trial of subcutaneous azacitidine in patients with the myelodis-plastic syndrome: a study of the Cancer and Leukemia group B (CALGB).
Proc ASCO, 17 (1998), pp. 14a
[21.]
Savage D., Lindenbaum J..
Anemia in alcoholics.
Medicine, 65 (1986), pp. 322-338
[22.]
Demiroglu H., Dunder S..
Vit.B6 responsive sideroblastic anemia in a patient with tuberculosis.
Br J Clin Pract, 51 (1997), pp. 51-52
[23.]
Hayton B.A., Broome H.E., Libenbraum R.C..
Copper deficiency-induced anemia and neutropenia secondary to intestinal malabsortion.
Am J. Hematol, 48 (1995), pp. 185-189
[24.]
Tamura H., Hirose S., Watanebe O., et al.
Anemia and neutropenia due to copper deficiency in enteral nutrition.
J Parent Enter Nutr, 18 (1994), pp. 185-189
[25.]
Fiske D.N., Mc Coy H.E., Kitchens C.S..
Zinc induced sideroblastic anemia: report of a case, review of the literature and description of the haematological syndrome.
Am J Hemat, 46 (1994), pp. 147-150
[26.]
Ramandurai J., Shapiro C., Korloff M., Telfer M..
A J Haematol, 42 (1993), pp. 227-228
[27.]
O'Brien H., Amess J.A.L., Mollin D.L..
Recurrent thrombocitopenia, erythroid hipoplasia and side-roblastic anemia associated with hypothermia.
Br J Haematol, 51 (1982), pp. 451-456
Copyright © 2002. Academia de Ciencias Médicas de Bilbao
Opciones de artículo
Herramientas