No abstract available.
Anemia, Sideroblastic* ; High-Throughput Nucleotide Sequencing* ; Humans ; Infant* ; Male*

Refractory anemia with ringed sideroblasts (RARS) is an extremely rare type of myelodysplastic syndrome in children. We describe a 10-year-old boy with RARS presented with pancytopenia. He remained relatively stable with only a few transfusions until age of 20 years, when he underwent an allogeneic bone marrow transplantation (BMT) because of increased transfusion requirements. He remains in complete chimeric state at 20 months posttransplant with normal hematologic parameters. To our knowledge, this is the first description of successful BMT in a patient with childhood-onset RARS. The indication of BMT for this rare disorder in children is discussed.
Anemia, Refractory/therapy* ; Anemia, Sideroblastic/therapy* ; Bone Marrow Transplantation* ; Case Report ; Child ; Human ; Male ; Transplantation, Homologous

Mitochondria is the main place of biological oxidation and energy transform. Mitochondrial DNA encodes the complex of respiratory chain in mitochondria and its mutation can cause a series of human disease. Mitochondrial DNA mutation which observed in myelodysplastic syndrome (MDS) patients cause the MDS by the mechanism of iron metabolism disorder, gene instability and hemopoietic progenitor cell apoptosis. In this review the characteristics of mitochondrial DNA structure, the mitochondrial DNA mutation and the possible mechanism of mitochondrial DNA mutation in pathogenesis of MDS were summarized.
Anemia, Sideroblastic ; genetics ; DNA, Mitochondrial ; genetics ; Humans ; Myelodysplastic Syndromes ; complications ; genetics ; Point Mutation

Anemia, Sideroblastic ; diagnosis ; genetics ; Asian Continental Ancestry Group ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Pedigree

Anemia, Sideroblastic ; congenital ; diagnosis ; therapy ; Child ; Erythrocyte Transfusion ; Female ; Humans ; Hyperbilirubinemia ; etiology

5-Aminolevulinate Synthetase/genetics* ; Anemia, Sideroblastic/genetics* ; Genetic Diseases, X-Linked/genetics* ; Humans ; Mutation

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.
Abdominal Pain ; Adult ; Anemia ; Anemia, Sideroblastic ; Biopsy ; Bone Marrow ; Female ; Herbal Medicine ; Humans ; Hyperbilirubinemia ; Lead Poisoning ; Oxidoreductases

The objective of this study was to explore the differences between refractory anemia with ringed sideroblast (RARS) and RARS associated with marked thrombocytosis (RARS-T) in the clinical, biological features and prognosis. The morphological changes of cells were observed by bone marrow smear and biopsy. Immunologic phenotype was analyzed by flow cytometry, and chromosome was examined by conventional chromosomal analysis. JAK2 V617F and MPL W515L mutations were screened by allele-specific polymerase chain reaction (AS-PCR) and sequence analysis. The results showed that this case was clinically diagnosed as RARS with thrombophilia, the level of serum potassium was positively related with platelet counts. When platelets increased, the clusters of atypical giant platelets and megakaryocytes were observed in peripheral blood and bone marrow examined by bone marrow smear and bone marrow biopsy respectively, JAK2 V617F and MPL W515L mutations were negative. It is concluded that RARS may transform into RARS-T accompanied with megakaryocyte proliferation, large atypical platelets and negative JAK2 V617F. Preventing thrombophilia and monitoring relative gene mutations are necessary when atypical giant platelets and fluctuant platelet counts occurred in process of RARS with tendency to RARS-T.
Aged ; Anemia, Refractory ; diagnosis ; metabolism ; pathology ; Anemia, Sideroblastic ; diagnosis ; pathology ; Blood Platelets ; pathology ; Female ; Humans ; Platelet Count ; Thrombocytosis ; pathology

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.
Anemia ; Anemia, Sideroblastic* ; Bone Marrow ; Erythrocytes ; Erythroid Cells ; Female ; Folic Acid ; Heme ; Humans ; Hyperplasia ; Pregnancy ; Pregnant Women* ; Prenatal Care* ; Pyridoxine

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.
Anemia ; Anemia, Hypochromic ; Anemia, Sideroblastic* ; Bone Marrow ; Child, Preschool ; Humans ; Hyperplasia ; Iron Overload ; Male* ; Mitral Valve Prolapse* ; Mitral Valve* ; Mortality ; Pyridoxine*