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In thalassemia, ineffective erythropoiesis causes the bone marrow to expand. This expansion is a compensatory response to the damage caused to red blood cells by the imbalanced production of globin chains. [28] Bone marrow expansion can lead to abnormal bone structure, particularly in the skull and face.
Ineffective erythropoiesis is defined by the expansion of early-stage erythroid precursors driven by erythropoietin, accompanied by the apoptosis of late-stage precursors. . This mechanism is principally responsible for the anemia seen in acquired conditions such as certain subtypes of myelodysplastic syndrome (MDS) and inherited disorders such as β-thalassemia, inherited sideroblastic ...
In beta thalassemia, a single faulty gene can be either asymptomatic or cause mild disease; if both genes are faulty this causes moderate to severe disease. [32] More than 350 mutations have been identified which can cause beta thalassemia; 20 of these account for 80% of beta-thalassemia cases. [18] Two major groups of mutations can be ...
In thalassemia, ineffective erythropoiesis causes the bone marrow to expand. This expansion is a compensatory response to the damage caused to red blood cells by the imbalanced production of globin chains. [32] Bone marrow expansion can lead to abnormal bone structure, particularly in the skull and face.
Ineffective erythropoiesis: Ineffective erythropoiesis is an anemia caused by the premature apoptosis of the body's mature red blood cells [49] and subsequent reduction in an adequate production and full maturation of new healthy red blood cells. [50] Macrocytic anemia: Megaloblastic anemia: D51.1, D52.0, D53.1: 29507
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
Dyserythropoiesis refers to the defective development of red blood cells, also called erythrocytes. [1] This problem can be congenital, acquired, or inherited. [2] Some red blood cells may be destroyed within the bone marrow during the maturation process, whereas others can enter the circulation with abnormalities. [3]
CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. [21] The symptoms and signs of congenital dyserythropoietic anemia are consistent fatigue, weakness, and pale skin. [21]
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