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Megaloblastic Anemias
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
A patient with vitamin B12 deficiency may have a wide range of symptoms affecting various organ systems or may be completely asymptomatic and identified because of a macrocytosis detected on a screening blood count. In symptomatic patients, the symptoms may be related to the anemia or to other manifestations of vitamin B12 deficiency. The anemia may be severe, with hemoglobin values as low as 3 g/dL; the anemia is often surprisingly well tolerated because it develops so slowly. Weakness, easy fatiguability, dyspnea, palpitations, or angina may be present, depending on the severity and rapidity of onset of the anemia. Rarely, purpura is present due to thrombocytopenia. The patient may be pale or slightly jaundiced, depending on the degree of ineffective erythropoiesis.
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
Despite the variable bone marrow picture, all patients have reticulocytopenia, and thus some appear to have ineffective erythropoiesis. In addition, dyserythropoietic morphology has been seen occasionally. Two patients were reported to have ringed sideroblasts, which later disappeared.92,93 Multiply transfused patients accumulate iron in the marrow and other organs (Figure 4B).
Gastroenterology and hepatology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
Unconjugated hyperbilirubinaemia:1 Haemolysis (haemoglobinopathies, e.g. sickle-cell anaemia, thalassaemia; congenital spherocytosis; G6PD deficiency; malaria; antibody-related haemolysis, e.g. incompatible blood transfusion).2 Ineffective erythropoiesis (B12/folate deficiency).3 Neonatal physiological jaundice.4 Congenital (Gilbert’s syndrome; Crigler–Najjar’s syndrome).
Oral ferroportin inhibitor vamifeport for improving iron homeostasis and erythropoiesis in β-thalassemia: current evidence and future clinical development
Published in Expert Review of Hematology, 2021
John Porter, Ali Taher, Vip Viprakasit, Antonis Kattamis, Thomas D Coates, Maciej Garbowski, Franz Dürrenberger, Vania Manolova, Frank Richard, M. Domenica Cappellini
Data from preclinical and Phase I studies of vamifeport showing amelioration of ineffective erythropoiesis, a favorable safety profile, and the ability to lower serum iron levels and TSAT, supported its continued clinical evaluation [42,50]. Data from the ongoing Phase IIa and planned Phase IIb studies will be critical to better understanding the full potential of vamifeport. Particularly relevant will be the study endpoints relating to iron load, transfusion burden, hemoglobin level, and hemopoietic/erythropoietic activity, alongside the demonstration of an acceptable safety profile. The inclusion of adolescents in these studies may help assess the feasibility of early intervention with vamifeport, although studies in younger patients (e.g. ≤12 years of age) will also be required. In theory, starting a treatment designed to modulate iron homeostasis and decrease ineffective erythropoiesis as early as possible has the potential to reduce long-term complications such as extramedullary hematopoiesis and iron overload. Optimal dosing and intervals between doses will need to be established in patients with thalassemia. Simulating vamifeport PK following various dose administration protocols, combined with a better understanding of the underlying PK/PD relationship, should contribute to achieving this goal.
Chronic Hemolysis May Adversely Affect Skeletal Health. A Cross-Sectional Study of a Pediatric Population
Published in Hemoglobin, 2021
Artemis Doulgeraki, Christine Fragodimitri, Helen Athanasopoulou, Kalliopi Drakaki, Fotis Karabatsos, Vasiliki Schiza, Jacqueline Yousef, Ioannis Monopolis, Antonia Chatziliami
The decrease in LS BMD was found to be more pronounced and this is reported in other studies [20,21]. Apparently, ineffective erythropoiesis, a compensatory mechanism for anemia, can cause a marked increase in the number of erythroid precursors, and therefore, considerable bone marrow expansion. The net result is significant cortical thinning and disruption of trabecular bone. Wong et al. [22] found a positive correlation between Hb levels and BMD in thalassemia syndromes, thus confirming the aforementioned mechanism, whereas Angastiniotis et al. [23] showed that β-TI in particular is associated with a more expanded hypercellular bone marrow on magnetic resonance imaging. Indeed, in our cohort, β-TI patients were more markedly affected. Possible explanations include the presence of iron overload in β-TI, which results from greater gastrointestinal iron absorption, increased iron accumulation through chronic hemolysis and occasional transfusions [24]. Another proposed mechanism for decreased bone mass in chronic hemolysis was the impaired oxygen delivery to muscle and bone, due to prolonged, lower Hb levels, leading to low bone mass and strength and also to less physical activity [25].
Expression profile analysis reveals hub genes that are associated with immune system dysregulation in primary myelofibrosis
Published in Hematology, 2021
Haotian Ma, Jincen Liu, Zilong Li, Huaye Xiong, Yulei Zhang, Yanping Song, Jianghua Lai
5-Aminolevulinic acid synthase (ALAS) is encoded by ALAS2 and can catalyze the formation of 5-aminolevulinic acid from succinyl-coenzyme A and glycine, which is the first step in haemoglobin synthesis [50]. Increased haemoglobin synthesis could promote haematopoietic cell differentiation [51]. The upregulated expression of ALAS2 could cause enhanced haem production, haemoglobinization, and erythropoiesis [52]. In this study, we found that the expression of ALAS2 was enhanced in patients, reflecting that ALAS2, similar to EPB42 and SLC4A1, could affect the abnormally increased erythropoiesis in PMF [53], which may be related to ineffective erythropoiesis. Ineffective erythropoiesis is one of the main causes of anaemia and organomegaly. In addition, several studies revealed that haem- or haemoglobin-related genes were also expressed in non-erythrocyte cells, such as cervicovaginal epithelial cells and murine macrophages, in response to different stress conditions [54,55]. It is well established that haem is an important molecular factor for cellular physiological and metabolic functions. However, excessive free haem has toxic effects on cells [56]. In this study, we conjecture that the enhanced expression of ALAS2 reflects an increased level of haem, indicating a feasible reason for the immunological response in patients with PMF.