Aplastic anemia

Aplastic anemia is a rare blood disorder. It occurs when the stem cells in your bone marrow do not create enough blood cells. People with aplastic anemia may experience fatigue, bruising or shortness of breath. For many people, medications effectively treat these symptoms. In severe cases, you may need a bone marrow transplant. Overview What is aplastic anemia? Aplastic anemia is a rare blood disorder. This serious condition is a type of bone marrow failure syndrome. If you have aplastic anemia, the springy tissue inside your bones (bone marrow) does not produce enough What does bone marrow do? In healthy bone marrow, stem cells produce three types of blood cells. When these blood cells are fully formed, they leave your bone marrow and enter your bloodstream. • Red blood cells transport oxygen by getting it from the lungs and circulating it throughout your body. • White blood cells (leukocytes) fight and destroy bacteria and germs. • Platelets stop bleeding by helping your blood to clot. How does aplastic anemia affect my body? When you have aplastic anemia, your body doesn’t create enough blood cells because you don’t have adequate amounts of stem cells. Usually, acquired aplastic anemia occurs because an immune trigger (disease where the body attacks itself) damages your stem cells. What are the types of aplastic anemia? There are two types of aplastic anemia: • Inherited aplastic anemia occurs because of a random gene mutation. It is most common in children and younger ...

Aplastic anemia is a disorder of the hematopoietic stem cell that results in a loss of blood cell precursors, hypoplasia or aplasia of bone marrow, and cytopenias in two or more cell lines (red blood cells, white blood cells, and/or platelets). Symptoms result from anemia, thrombocytopenia (petechiae, bleeding), or leukopenia (infections). Diagnosis requires demonstration of peripheral pancytopenia and a bone marrow biopsy revealing a hypocellular marrow. Treatment usually involves immunosuppression with equine antithymocyte globulin and cyclosporine, or bone marrow transplantation. The term aplastic anemia commonly implies a panhypoplasia of the bone marrow with cytopenias in at least two hematopoietic lineages. In contrast, Pure Red Blood Cell Aplasia Acquired pure red blood cell aplasia is a disorder of erythroid precursors that results in an isolated normocytic anemia. White blood cells and platelets are not affected. Symptoms result from... read more is restricted to the erythroid cell line. Etiology of Aplastic Anemia In aplastic anemia, anemia may cause weakness and easy fatigability while severe Symptoms and Signs Platelets are circulating cell fragments that function in the clotting system. Thrombopoietin helps control the number of circulating platelets by stimulating the bone marrow to produce megakaryocytes... read more may cause petechiae, ecchymosis, and bleeding from the gums, into the conjunctivae, or other tissues. Neutropenia Neutropenia is a reduction in...

Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely critical to appropriate management, especially differentiating between acquired and inherited forms of the disease. The hematology field requires updated diagnostic guidelines to ensure that appropriate clinical pathways are pursued for patients and their safety. There are increasing clinical options for patients with immunosuppressive therapy and transplant once the diagnosis is made. In a case-based format, this review emphasizes the newer data on molecular (somatic and germline) findings in AA and how they are (or are not) helpful during diagnosis. There are key details on somatic mutation profiles and stated evidence where available for prognostic and treatment indications. Germline details of newer syndromes are also outlined, which make this review modern and reflect areas of uncertainty for clinicians. The bone marrow failure (BMF) state of aplastic anemia (AA) is marked by cytopenias and ineffective hematopoiesis. 1 AA confers a significant risk for morbidity and death as a result of its progressivenatural history and/or complications related to suboptimal therapy. 2 , 3 Without definitive treatment, mortalityfrom severe AA (SAA) approaches 70% at 2 years. 4 Establishing an accurate etiology of the AA ischallenging but also absolutely critical to appropriate management, especially differentiating between acquired and inherited forms of the disease. With ever-evolving diagnosti...