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Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. [4] CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase.
Bone marrow failure in both children and adults can be either inherited or acquired. Inherited bone marrow failure is often the cause in young children, while older children and adults may acquire the disease later in life. [3] Acquired bone marrow failure may be due to aplastic anemia [4] or myelodysplastic syndrome.
Aplastic anemia is a rare, noncancerous disorder in which the blood marrow is unable to adequately produce blood cells required for survival. [44] [45] It is estimated that the incidence of aplastic anemia is 0.7–4.1 cases per million people worldwide, with the prevalence between men and women being approximately equal. [46]
This is a life-threatening disorder that is a characteristic of aplastic anemia. [3] There are also two general causes of cytopenia: autoimmune and refractory. Autoimmune cytopenia is caused by an autoimmune disease when your body produces antibodies to destroy the healthy blood cells.
Pure red cell aplasia (PRCA) or erythroblastopenia refers to a type of aplastic anemia affecting the precursors to red blood cells but usually not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. There are multiple etiologies that can cause PRCA. The condition has been first described by Paul Kaznelson in 1922. [1]
Aplastic anemia is a condition where bone marrow does not produce sufficient new cells to replenish blood cells. [27] Autoimmune hemolytic anemia: D59.0-D59.1: Autoimmune hemolytic anemia (AIHA) is a type of hemolytic anemia where the body's immune system attacks its own red blood cells (RBCs), leading to their destruction .
Paroxysmal nocturnal hemoglobinuria (rare acquired clonal disorder of red blood cell surface proteins) Direct physical damage to RBCs Microangiopathic hemolytic anemia; Secondary to artificial heart valve(s) Aplastic anemia. Fanconi anemia; Diamond–Blackfan anemia (inherited pure red cell aplasia) Acquired pure red cell aplasia; Decreased ...
Individuals with TEC have a median age of presentation of 18–26 months; however, the disorder may occur in infants younger than 6 months and in children as old as age 10 years. Because of the gradual onset of the anemia, children are often healthier than expected from their low hemoglobin levels. [citation needed]