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Complications associated with chronic anemia
Reduced hemoglobin production
The production of hemoglobin is frequently reduced in hematological diseases. Since the majority of iron transported into erythroblasts is incorporated into heme, reduced heme production can lead to excess iron build-up in erythroid cells.2,4 Additionally, hemoglobin shortage in the body is compensated by an increase in intestinal iron uptake.5 The combination of reduced hemoglobin levels and iron build-up leads to iron overload.6
Impact on health-related quality of life
The impact of anemia on health-related quality of life has been studied in patient populations with a range of hematological disorders. Anemia was associated with a reduced health-related quality of life, with severe fatigue being the main symptom in patients.7
Chronic anemia is associated with symptoms such as fatigue, dyspnea, tachycardia, hypotension, low body temperature and an enlarged spleen.2,8,9 If left untreated, this condition may result in further complications, such as heart failure (due to rapid or an irregular heartbeat), cognitive impairment, renal failure or death.2,5
For more information on the implications of ineffective erythropoiesis, please visit Implications of IE
Chronic anemia in hematological diseases
Myelodysplastic syndromes (MDS)
MDS are a diverse and heterogeneous group of disorders characterized by ineffective hematopoiesis, dysplasia in hematopoietic cells, cytopenias and increased risk of progression to acute myeloid leukemia. Mutations involving signalling molecules, epigenetic regulators, splicing factors and transcription regulators are present in most cases of MDS.10
Click here to download the slide deck to learn more about MDS. Click here to watch the video below.
Thalassemia (e.g. specific types of α- and β-thalassemias)
Thalassemias are inherited genetic diseases caused by decreased or absent expression of one of the two globin chains of the hemoglobin molecule, α and β, resulting from mutations in, or deletion of, the encoding genes.5,11 The severity of the disease depends on the nature of the mutation or deletion, with symptoms ranging from no clinical symptoms to severe anemia.11
Click here to download the slide deck to learn more about β-thalassemia. Click here to watch the video below.
Expert discussions: Mechanisms of chronic anemia associated with MDS and β-thalassemia
Parallels in ineffective erythropoiesis: MDS and β-thalassemia biology
Professor Clara Camaschella, Professor of Internal Medicine and Haematology, Vita-Salute San Raffaele University
In this video, Professor Camaschella discusses some of the growth factors and transcription factors involved in erythropoiesis. Professor Camaschella describes the crucial roles GATA-1 and TBF-β superfamily play in normal and ineffective erythropoiesis as well as in chronic anemia observed in MDS and β-thalassemia.
6-minute video
Mechanisms of anemia in β-thalassemia
Professor Maria Domenica Cappellini, Professor of Internal Medicine, University of Milan
In this video, Professor Cappellini focuses on the mechanisms of anemia in β-thalassemia, describing the elements that contribute to ineffective erythropoiesis. Professor Cappellini also addresses the importance of ineffective erythropoiesis and the varying severity of
4-minute video
Aplastic anemia
Aplastic anemia is a blood disorder characterized by bone marrow failure causing an inability to produce blood cells and a deficit in HSCs and progenitor cells.12,13 This leads to pancytopenia and various symptoms such as fatal anemia, bleeding and infection.13 The causes of aplastic anemia include viral infection, environmental toxins and genetic mutations in genes affecting cellular mechanisms, which lead to bone marrow failure through physical or chemical damage, immune destruction or constitutional genetic defects.12,13
Myelofibrosis
Myelofibrosis is a myeloproliferative neoplasm characterized by ineffective stem cell-derived clonal hematopoiesis and bone marrow stromal reactions, including reticulin fibrosis, abnormal cytokine expression and extramedullary hematopoiesis. This leads to an array of symptoms including hepatosplenomegaly and severe anemia. Ineffective erythropoiesis is the main cause of anemia and it is suggested that aberrant cytokine production and host immune reaction may also contribute to this process.14
Sickle cell anemia
Sickle cell disease describes a group of inherited disorders characterized by abnormal hemoglobin molecules, hemoglobin S, caused by a point mutation in the β-globin chain.15,16 In sickle cell anemia, the most common form of sickle cell disease, both β-globin subunits of the hemoglobin molecule are replaced by hemoglobin S. This leads to intravascular vaso-occlusion, stroke, priapism and acute chest syndrome.16 Symptoms vary from person to person, as some may experience mild symptoms while others may encounter more serious complications.17
Congenital dyserythropoietic anemias
Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by anemia due to ineffective erythropoiesis with distinct morphological abnormalities of erythroblasts. These disorders result in variable degrees of anemia without additional cytopenias.18
Inherited sideroblastic anemias
Sideroblastic anemia includes a group of heterogeneous disorders, characterized by the accumulation of iron in immature erythroid cells, which are referred to as ringed sideroblasts. The ineffective erythropoiesis characteristic of patients with inherited sideroblastic anemia is caused by mutations in genes involved in the initial stages of heme synthesis. Reduced levels in hemoglobin and iron overload can cause mild to severe disease symptoms.9
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