Anemia sideroblástica una enfermedad infrecuente de causas múltiples / Sideroblastic anemia, a rare disease of multiple causes

Introducción: La anemia sideroblástica es un trastorno hematológico que altera el proceso de la hematopoyesis, en la cual se ve afectada en mayor proporción la línea eritroide. Además, se presentan alteraciones en la síntesis del grupo hemo por disfunción mitocondrial en las células de la médula ósea. Objetivo: Indagar sobre la anemia sideroblástica, sus variables y los diferentes tipos de presentación que puede tener esta enfermedad. Métodos: Se llevó a cabo una revisión de la literatura en las bases de datos MEDLINE, EMBASE, Lilacs y ScienceDirect, con los descriptores: anemia sideroblástica, hematopoyesis, anomalías congénitas y 5-aminolevulinato sintetasa, en español e inglés. Se seleccionaron 26 artículos relacionados. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Es una enfermedad de origen congénito o secundario a otros procesos como el consumo de alcohol o inducido por algunos medicamentos. Se presenta con poca frecuencia y, en su mayoría, el diagnóstico se hace mediante estudios de laboratorio, como extendido de sangre periférica, estudio de médula ósea, a los que se les pueden aplicar diversas tinciones, realizar secuenciación o incluso realizar reacción en cadena de polimerasa. Conclusión: La anemia sideroblástica es una enfermedad puede relacionarse con otras alteraciones hematológicas que modifican el metabolismo del hierro. El tratamiento curativo es la trasfusión de hemocomponentes y debe hacerse un enfoque individualizado de cada paciente según el tipo de anemia sideroblástica(AU)

Introduction: Sideroblastic anemia is a hematological disorder that alters the hematopoiesis process. This condition affects, to a great extent, the erythroid line. In addition, alterations occur in the synthesis of the heme group due to mitochondrial dysfunction in the bone marrow cells. Objective: To investigate sideroblastic anemia, its variables and the different types of presentation of this disease. Methods: A literature review was carried out in the MEDLINE, EMBASE, Lilacs and ScienceDirect databases, using the descriptors anemia sideroblástica [sideroblastic anemia], hematopoyesis [hematopoiesis], anomalías congénitas [congenital anomalies] and 5-aminolevulinato sintetasa [5-aminolevulinate synthetase], in Spanish and English. Twety-six articles related to the topic were selected. An analysis and summary of the revised bibliography was carried out. Information analysis and synthesis: It is a disease of congenital origin or secondary to other processes such as alcohol consumption or induced by some medications. It occurs infrequently and its diagnosis is mostly made through laboratory studies, such as peripheral blood smear and bone marrow study, to which various stains can be applied, as well as sequencing or even polymerase chain reaction. Conclusion: Sideroblastic anemia is a disease that can be related to other hematological alterations that modify iron metabolism. The curative treatment is the transfusion of blood components. An individualized approach should be used according to the type of sideroblastic anemia(AU)

Síndrome de Pearson: Reporte de un caso / Pearson syndrome: Case report

Entre las etiologías de anemias en la infancia, las citopatías mitocondriales son poco frecuentes. El síndrome de Pearson se diagnostica principalmente durante etapas iniciales de la vida y es caracterizado por anemia sideroblástica refractaria con vacuolización de células progenitoras en la médula ósea, disfunción del páncreas exocrino y variables alteraciones neurológicas, hepáticas, renales y endocrinas. En el siguiente informe reportamos un nuevo caso de lactante mayor femenino de 14 meses de edad, evaluada de forma multicéntrica con diagnostico clínico y molecular de síndrome de Pearson, con la deleción común de 4.977 pares de bases del ADN mitocondrial. Esta entidad ha sido asociada a diversos fenotipos dentro del amplio espectro clínico de las enfermedades mitocondriales.

Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

Diagnóstico diferencial da deficiência de ferro: [revisão] / Differential diagnosis of iron deficiency: [review]

A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro. Neste artigo são brevemente descritas outras condições que podem cursar com anemia microcítica, tais como: talassemias, anemia de doença crônica, anemia sideroblástica e envenenamento por chumbo, patologias estas que devem ser afastadas durante investigação de anemia ferropriva.

Iron deficiency is considered to be the commonest hematological pathology in humans. Thus, the essential steps in an adequate approach of iron deficiency include: the proper identification of its causes and the differentiation between iron deficiency and other conditions. This article briefly describes other conditions that may present with microcytic anemia such as thalassemia, anemia of chronic diseases, sideroblastic anemia and lead intoxication. These diseases should be considered during the investigation of iron deficiency anemia.

A case of sideroblastic anemia caused by lead-containing herbal medication / 대한내과학회지

Although lead intoxication is commonly mentioned as a cause of sideroblastic anemia, no well-documented case exists in the literature. We encountered a patient with sideroblastic anemia caused by lead-containing herbal medicine. A 34-year-old woman was admitted to our hospital with abdominal pain. She had taken herbal medicine for her general health. Anemia, hyperbilirubinemia, and elevated lactic dehydrogenase were found from the laboratory data. Bone marrow biopsy showed pathological ringed sideroblasts. Her serum level of lead was high and the lead content of the tablet was higher than permitted. We diagnosed her with sideroblastic anemia secondary to lead poisoning caused by herbal medicine. We stopped her from taking herbal medicine and she gradually recovered from anemia.

Congenital sideroblastic anemia: A report of two cases.

Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.

Identification of a Hemizygous R170H Mutation in the ALAS2 Gene in a Young Male Patient with X-linked Sideroblastic Anemia

X-linked sideroblastic anemia (XLSA) is a rare hereditary disease characterized by microcytic hypochromic anemia, ineffective erythropoiesis and the presence of numerous ringed sideroblasts in the bone marrow. The causative gene is the erythroid delta-aminolaevulinate synthase 2 gene (ALAS2) on Xp11.21. We report here a case of XLSA. The patient was a 20-year-old Korean man referred to our hospital under the impression of sideroblastic anemia (SA). Laboratory findings, including a peripheral blood smearand bone marrow study, were compatible with SA. The family history was not remarkable. Based on the early age of onset, we suspected a hereditary form of SA, particularly XLSA. Direct DNA sequencing of ALAS2 detected a hemizygous c.509G>A (R170H) mutation in exon 5 of the gene. The patient showed minimal response to pyridoxine treatment. To the best of our knowledge, this is the first case of genetically confirmed XLSA from a mutation in ALAS2 in Korea.

Pyridoxine responsive sideroblastic anemia in a boy with mitral valve prolapse / 소아과

Sideroblastic anemia is a rare, heterogeneous group of disorders characterized by hyperferremia, microcytic hypochromic anemia, and bone marrow erythroid hyperplasia with the presence of numerous ringed sideroblasts. We describe herewith the case of a rare coincidence of sideroblastic anemia and mitral valve prolapse with resultant regurgitation in a 2-year-old boy. In addition to the inherent propensity for the development of cardiac dysfunction in sideroblastic anemia due to transfusion-associated myocardial iron overload and chronic anemia, a coincidence of MVP will further increase the likelihood of the morbidity or mortality of th patient. in this patient. After response to pyridoxine, the patient remains in good condition with stable hemoglobin levels.

A Case of Hereditary Sideroblastic Anemia

We experienced a case of pyridoxine refractory hereditary sideroblastic anemia (HSA) in a 4 year-old girl and; therefore, conducted a study of her family. She was admitted to hospital for anemia, which was uncorrected by iron treatment. The peripheral blood smears showed hypochromic microcytic anemia. The results of the biochemical study indicated serum iron of 80 microgram/dL, TIBC of 275 microgram/dL and serum ferritin of 67ng/dL. The bone marrow smears showed 80% cellularity, with mild dyserythropoiesis. Many ringed sideroblasts, 45% of normoblasts and an increased amount of hemosiderin particles were observed with iron staining. Despite high-dose pyridoxine therapy, the anemia was not corrected. In the peripheral blood and iron studies conducted on her family members, the mother, maternal aunt and aunt's son showed microcytic hypochromic anemia and normal iron metabolism. Her mother's brother had died of acute myeloid leukemia that had transformed from myelodysplastic syndrome. From a search of the Korean literature, this is the first reported case of HSA with pedigree.

The prenatal care and delivery in a pregnant woman complicated by hereditary sideroblastic anemia / 대한산부인과학회잡지

Anemia is the one of the most common complications among pregnant women, but sideroblastic anemia is very rare condition. The sideroblastic anemias have diverse etiologies but have in common an impaired biosynthesis of heme in the erythroid cells of the marrow. The ringed sideroblasts in the bone marrow aspirate is diagnostic hallmark of sideroblastic anemia. We report here a prenatal care and delivery in a pregnant woman complicated by hereditary sideroblastic anemia. This patient was treated with 200mg of pyridoxine per day during entire pregnancy period and further more, 4mg of oral folate per day was supplemented because concomitant folate deficiency is frequent in case of erythroid hyperplasia. Intermittently, the transfusions of packed red blood cells were required to maintain the hemoglobin level in the 9 to 10gm/dl range. We have experienced healthy maternal and perinatal outcome.

Acquired Idiopathic Sideroblastic Anemia: A clinical study of 15 patients / 대한혈액학회지

BACKGROUND: Acquired idiopathic sideroblastic anemia (AISA) is a heterogeneous condition. Most instances, involving only the erythroid line, are benign disease with a longer survival and a low propensity for evolution into acute leukemia. A subset of patients have severe clinical course and evidence of other cell line involvement at presentation, may develop the emergence of blast cells and evolution into acute leukemia. In an attempt to identify the natural history and the risk factors for the development of acute leukemia, the clinical, hematological and outcome data were studied in the patients with AISA. METHODS: We reviewed retrospectively the medical records of 15 patients of AISA treated at the Catholic University of Taegu-Hyosung and Kyungpook National University Hospital from March 1989 to December 1995. RESULTS: The median age at diagnosis was 41 years and the male to female ratio was 8 : 7. On bone marrow examination, erythroid abnormalities were prominent in all cases, 5 patients also showed involvement of the granulocytic and/or megakaryocytic cell lines (AISA with myelodysplastic features, AISA-M). The median follow-up duration was 32 months. Transfusion dependence occurred in 11 of 16 cases. Progression towards refractory anemia with excess of blasts or acute leukemia (M2) was observed in two patients with AISA-M after follow-up period of 16 months and 24 months, respectively. Infections and hemorrhages were causes of death in 3 patients with AISA-M but not in patients with dyserythropoiesis only (AISA-erythroid, AISA-E). CONCLUSIONS: Most patients with AISA have a relatively benign course with prolonged survival after the onset of anemia. Patients with features of dysgranulopoiesis and/or dysmegakaryopoiesis in addition to dyserythropoiesis at presentation were increased risk of transformation to refractory anemia with excess of blasts or acute leukemia and shorter surtival. But further study of larger numbers of patients and longer follow-up may be warranted.