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Hematology. Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes.
Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at one in 100,000. [4]
In medicine, Carnett's sign is a finding on clinical examination in which (acute) abdominal pain remains unchanged or increases when the muscles of the abdominal wall are tensed. [1][2] For this part of the abdominal examination, the patient can be asked to lift the head and shoulders from the examination table to tense the abdominal muscles.
Hemolytic anemia or haemolytic anaemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular). [2] This most commonly occurs within the spleen, but also can occur in the reticuloendothelial system or mechanically ...
Hemolytic–uremic syndrome (HUS) is a group of blood disorders characterized by low red blood cells, acute kidney injury (previously called acute renal failure), and low platelets. [1][3] Initial symptoms typically include bloody diarrhea, fever, vomiting, and weakness. [1][2] Kidney problems and low platelets then occur as the diarrhea ...
Functional abdominal pain syndrome is a functional gastrointestinal disorder. [4] Functional gastrointestinal disorders (FGD) are common medical conditions characterized by recurrent and persistent gastrointestinal symptoms caused by improper functioning of the enteric system in the absence of any identifiable organic or structural pathology, such as ulcers, inflammation, tumors or masses.
Microcytosis. Specialty. Hematology. Microcytosis or microcythemia[1] is a condition in which red blood cells are unusually small as measured by their mean corpuscular volume. [2] When associated with anemia, it is known as microcytic anemia.
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.