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Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
This is an incomplete list, which may never be able to satisfy certain standards for completion. There are many conditions of or affecting the human hematologic system—the biological system that includes plasma, platelets, leukocytes, and erythrocytes, the major components of blood and the bone marrow. [1]
Hemoglobin variants can be discovered through examination, routine laboratory testing, or evaluation of patients with severe anemia. [3] In some countries, all newborns are tested for hemoglobinopathies, thalassemias, and HbS.
Hemoglobinopathies (where these is an unstable or crystalline hemoglobin) 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
Anemia (also spelled anaemia in British English) is a blood disorder in which the blood has a reduced ability to carry oxygen.This can be due to a lower than normal number of red blood cells, a reduction in the amount of hemoglobin available for oxygen transport, or abnormalities in hemoglobin that impair its function.
Overall, hemoglobin C disease is one of the more benign hemoglobinopathies. [6] Mild-to-moderate reduction in RBC lifespan may accompany from mild hemolytic anemia. Individuals with hemoglobin C disease have sporadic episodes of musculoskeletal (joint) pain. [6] People with hemoglobin C disease can expect to lead a normal life. [14]
Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M (HbM) and elevated methemoglobin (metHb) level in blood. [1] HbM is an altered form of hemoglobin (Hb) due to point mutation occurring in globin-encoding genes, mostly involving tyrosine substitution for proximal (F8) or distal (E7) histidine residues. [2]
Hemoglobinopathies; Sickle cell disease; β thalassemia major (Cooley's anemia) Anemias. Aplastic anemia. Diamond–Blackfan anemia; Fanconi anemia; Cytopenias. Amegakaryocytic thrombocytopenia; Hemophagocytic syndromes Hemophagocytic lymphohistiocytosis (HLH)