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Transient Erythroblastopenia of Childhood
Published in Stephen A. Feig, Melvin H. Freedman, Clinical Disorders and Experimental Models of Erythropoietic Failure, 2019
These unusual disorders of childhood are due to abnormalities in folate, vitamin B12, or pyrimidine (i.e. orotic acid) metabolism. Characteristically, these disorders present in young children. From a hematologic perspective, there is anemia and reticulocytopenia. However, in contrast to TEC, the RBCs in these disorders are much larger than normal (i.e., macrocytic). In addition, there usually are other signs of disordered hematopoiesis, such as hypersegmentation of the neutrophil nuclei. In contrast to TEC, marrow erythroblasts reveal megaloblastic changes. The specific causes of megaloblastosis are determined by measurements of RBC folate concentration, serum vitamin B12 levels, and RBC orotidine carboxylase activity. These disorders seldom are confused with TEC.
Hematological problems in the neonate
Published in Prem Puri, Newborn Surgery, 2017
Andrea M. Malone, Owen P. Smith
Diamond–Blackfan anemia frequently presents in infancy with an isolated macrocytic anemia due to pure red cell aplasia. It classically causes reticulocytopenia. About half of these infants also have a variety of congenital anomalies. It is inherited in an autosomal dominant fashion, and the first causative gene, RPS19, was discovered more than 15 years ago. To date, 13 mutations in ribosomal genes have been identified. Red blood cell transfusions are the mainstay of treatment with careful monitoring of iron status to avoid visceral iron overload. HSCT may be considered.14
Accident and Emergency
Published in Nagi Giumma Barakat, Get Through, 2006
This is sporadic in about 80% of cases, but some families inherit this condition as AR, X-linked or AD. The anaemia can start in the neonatal period in 25% of patients, but recognizing DBA may be later in life or early if there is a family history. In 50% of patients, there are other anomalies - craniofacial anomalies being the most common, for example hyperthelorism, flat nasal bridge, and cleft or high-arched palate. There are thumb abnormalities in 10-20 %, ranging from a flat thenar eminence to an absent radius. In some cases, there is deafness or learning difficulties. They usually present at 2-3 months of age. The anaemia is associated with reticulocytopenia. The white cell count and platelets are normal or raised. There is a reduction in erythroid precursors in the bone marrow, with normal myeloid and mega-karyocytic differentiation. Raised levels of erythrocyte adenosine deaminase in red cells have been described in a high proportion of patients, but this is not diagnostic, as it is high in other conditions (e.g. leukaemia and myelo-dysplastic syndromes). Steroids remain the mainstay of treatment. Between 40 and 50% of patients will still need regular transfusions. Cyclosporine, erythropoietin and IV immunoglobulin are other treatment modalities. Bone marrow transplantation is very successful in 60-70% of patients and can be curative.
Ultrastructural analysis of nucleated erythrocyte in patients with autoimmune hemolytic anemia (AIHA)
Published in Ultrastructural Pathology, 2023
Jing Liu, Shuxu Dong, Yongxin Ru
AIHA is usually characterized by the destruction of mature RBCs in PB and proliferation of erythroid precursors in BM, but rarely the presence of damaged nucleated erythrocytes. In this study, BM smears of patients with a clinically definitive diagnosis of AIHA showed notable erythroid hyperplasia, mainly polychromatic and orthochromatic normoblasts. Mature erythrocytes showed different sizes and included polychromatic erythrocytes, which was consistent with increased level of reticulocyte count. In addition, spherocytes were occasionally seen due to defective macrophage phagocytosis.8 They are fragile and easily destroyed as they pass through the spleen. The reticulocyte absolute count is a useful indicator for assessing BM response.9,10 The positive compensation of BM to AIHA (reticulocytosis) is the normal response to the destruction of RBCs.11,12 However, the phenomenon of reticulocytopenia may be detected in peripheral blood in cases of insufficient capacity of BM, probably induced by autoantibody attack of nucleated erythrocytes.13
Current and emerging treatment options for autoimmune hemolytic anemia
Published in Expert Review of Clinical Immunology, 2018
Wilma Barcellini, Bruno Fattizzo, Anna Zaninoni
Bone marrow is undoubtedly the fundamental hematopoietic organ and also a key element of the lymphatic/immune system. It produces approximately 500 billion blood cells/day, including both myeloid and lymphoid lineages. The latter, after completing their maturation in other lymphoid organs (e.g. thymus), and through trafficking in the circulation and tissues, may become true immune effectors even in the BM. BM examination is not routinely performed in benign hematology, as it is generally assumed that an effective compensatory activity (reticulocytosis) occurs constantly after a peripheral immune-mediated destruction. Indeed, reticulocytopenia/inadequate reticulocytosis is present in more than a half of AIHA patients, typically in very severe cases and in CAD and mixed forms. Reticulocytopenia has been reported particularly in children, representing a clinical emergency with an extremely high transfusion need, and also attributed to an autoimmune reaction against BM erythroblasts [66–69]. Erythropoietin has been shown effective in AIHA, particularly in the presence of reticulocytopenia and in chronic, transfusion-dependent CAD to avoid overtransfusion [2,4]. Moreover, the androgen danazol has recently received attention for its promising effects in aplastic anemia (AA), a disease known for an immunological attack against BM precursors [70,71]. In this setting, its efficacy has been possibly attributed to telomere elongation. As a matter of fact, this drug has been used since long time in autoimmune diseases including AIHA, without knowing a definite mechanism of action.
Autoimmune cytopenias in chronic lymphocytic leukemia: a concise review and treatment recommendations
Published in Expert Review of Hematology, 2018
Tim R. De Back, Arnon P. Kater, Sanne H. Tonino
In CLL patients with unexplained, normocytic and normochromic anemia without signs of hemolysis, PRCA should be considered. PRCA is characterized by (i) a hemoglobin level < 11 g/dL (< 6 mmol/L), (ii) reticulocytopenia with normal platelet and neutrophil counts, and (iii) absence of other causes of PRCA, such as CMV, Epstein Barr virus, parvo B19 virus, acute and chronic hepatitis and thymomas [11,53,56,59]. Parvo B19 virus appeared to be the cause of PRCA in up to 25% of CLL patients [60], underlining the importance of excluding other causes of PRCA. A bone marrow biopsy in PRCA patients shows characteristic defects of erythroblast maturation [11].