China
Africa
Explore chapters and articles related to this topic
Clinical Pharmacology of the Anti-Tuberculosis Drugs
Published in Lloyd N. Friedman, Martin Dedicoat, Peter D. O. Davies, Clinical Tuberculosis, 2020
Gerry Davies, Charles Peloquin
LZD inhibits protein synthesis in human mitochondria resulting in clinically significant toxicities including myelosuppression, lactic acidosis, and peripheral and optic neuropathy. With prolonged dosing in MDR-TB more than half of patients will ultimately develop peripheral and/or optic neuropathy and 8% discontinue the drug, despite dose reduction.211 Trough concentrations of LZD correlate with mitochondrial dysfunction and risk of toxicity and therapeutic drug monitoring may be useful.213 Sideroblastic anemia has also been described. Nausea and diarrhea are also commonly reported.
Sideroblastic Anemia and Porphyrias
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Patients with idiopathic sideroblastic anemia may be asymptomatic and not require blood transfusions. Other symptomatic patients require blood transfusions at regular intervals. In these individuals, repeated transfusions can lead to hemosiderosis. Some require an iron chelating agent, such as desferrioxamine, for removal of excessive amounts of iron. Certain individuals respond rapidly and dramatically to desferrioxamine, with a fall in ferritin levels to the normal range. In these patients, there may be a diminution or even a temporary cessation of blood transfusions. Various hematinics such as folic acid and pyridoxine have been tried alone or in combination. For the most part these agents are ineffective, and many patients are transfusion dependent (Table 2).
Diamond-Blackfan Anemia
Published in Stephen A. Feig, Melvin H. Freedman, Clinical Disorders and Experimental Models of Erythropoietic Failure, 2019
Jeffrey M. Lipton, Blanche P. Alter
Dominant inheritance is apparent in 14 families in whom one parent had childhood anemia requiring transfusions and/or steroids, and one or more children had classical DBA.23,57,66,114–120 These dominant families include four affected fathers and five mothers. In one family the maternal grandfather, mother, and a son were all involved.53,54 In another family with two DBA children the grandfather had refractory sideroblastic anemia.57,121 There are two reports of three generation families with seven and six patients, respectively.122,123 There are also four families with affected stepchildren, with the father the link in three and the mother in one.123–127 The carrier parent had increased hemoglobin F and macrocytosis without significant anemia. The numbers of males and females in the dominant group are equal, the incidence of physical abnormalities is low, and the clinical course is generally milder in the dominant patients than in the overall DBA population.
A deep dive into future therapies for microcytic anemias and clinical considerations
Published in Expert Review of Hematology, 2023
François Rodrigues, Tereza Coman, Guillemette Fouquet, Francine Côté, Geneviève Courtois, Thiago Trovati Maciel, Olivier Hermine
Sideroblastic anemias (SA) are a group of inherited and acquired anemias characterized by ineffective erythropoiesis with accumulation of ring sideroblasts in erythroblasts due to disrupted heme biosynthesis [159]. Iron accumulates on the periphery of mitochondria because it fails to bind to the heme that is synthetized on both sides of the mitochondrial membrane. Causes of sideroblastic anemia are varied and include hereditary defects in the heme synthesis pathway, as well as acquired causes encompassing MDS, excess alcohol consumption, heavy metal toxicity, treatment with isoniazid, chloramphenicol or linezolid, and copper, vitamin B6, or thiamine deficiency [159]. Acquired causes that are not MDS are usually reversible with etiological treatment and are not within the scope of this review. Inherited SA are also outside the scope of this review.
Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias
Published in Hemoglobin, 2019
Yu Lian, Jun Shi, Neng Nie, Zhendong Huang, Yingqi Shao, Jing Zhang, Jinbo Huang, Xingxin Li, Meili Ge, Peng Jin, Min Wang, Yizhou Zheng
Thalassemia traits are diseases of hemoglobin (Hb) synthesis owing to lack of an α chain or β chain product, and are characterized by microcytic hypochromic anemia, which is also observed in another condition, congenital sideroblastic anemia (CSA). Congenital sideroblastic anemia is a rare inherited disorder that commonly demonstrates X-linked inheritance, and presents with hypochromic microcytic anemia due to defects in the synthesis of the heme group, with the presence of ring sideroblasts in the bone marrow [1–3]. The most common microcytic anemia is iron deficiency anemia. In clinical practice, we can definitively diagnose thalassemia trait and CSA using Hb electrophoresis, gene mutations and Prussian blue staining after bone marrow aspirate. These tests, however, are relatively expensive, invasive, and time-consuming. Here, we systemically analyzed the routine blood indexes from the three conditions to determine labor-saving parameters to facilitate the differential diagnosis of thalassemia trait and CSA.
Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia
Published in Pediatric Hematology and Oncology, 2019
Osamu Imataki, Shumpei Uchida, Makiko Uemura, Norimitsu Kadowaki
Congenital sideroblastic anemia is a rare hereditary disease characterized by dysregulation of erythropoiesis [1]. Congenital sideroblastic anemia is most commonly caused by erythropoiesis disorders and associated with mutations in the gene encoding erythroid-specific 5-aminolevulinate synthase (ALAS2) [2]. In majority of the cases, congenital sideroblastic anemia manifests in childhood, and the patient undergoes pyridoxine (i.e., vitamin B6) supplementation. Half of the patients respond to pyridoxine treatment, whereas the remaining patients require further treatment and progress and become dependent on blood transfusion. Transfusion dependency may result in iron overload and subsequent organ failure. No standard therapy has been established for patients in whom vitamin supplementation is unsuccessful. Herein, we report the case of a patient with adult-onset congenital sideroblastic anemia who was treated using stem cell transplantation (SCT) with a reduced-intensity, moderately myeloablative regimen. However, the patient experienced secondary graft failure. Additionally, we discuss optimal transplantation regimens for congenital sideroblastic anemia with review of previous transplantation cases [3–7].