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Congenital hypofibrinogenemia, an inherited disorder in which blood may not clot normally due to reduced levels of fibrinogen; the disorder may cause abnormal bleeding and thrombosis. [ 1 ] Fibrinogen storage disease , a form of congenital hypofibrinogenemia in which specific hereditary mutations in fibrinogen cause it to accumulate in, and ...
Titin [5] (/ ˈ t aɪ t ɪ n /; also called connectin) is a protein that in humans is encoded by the TTN gene. [ 6 ] [ 7 ] The protein, which is over 1 μm in length, [ 8 ] functions as a molecular spring that is responsible for the passive elasticity of muscle .
Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
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.
Thrombotic thrombocytopenic purpura (TTP) initially presents with a range of symptoms that may include severe thrombocytopenia (platelet count usually < 30,000/mm³), microangiopathic hemolytic anemia (evidenced by schistocytes in the blood smear), and various clinical signs such as petechiae, purpura, neurologic symptoms, myocardial ischemia ...
Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. [37] Hemoglobinopathy variants include sickle-cell disease. [38] Hemolytic anemia: D55-D59: 5534: Hemolytic anemia (also known as haemolytic anaemia) is an anemia due to hemolysis, the abnormal breakdown of red blood cells. A number of different mediating ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Blood film showing giant platelets — arrows — in a person with ITP (Giemsa stain) The diagnosis of ITP is a process of exclusion. First, it has to be determined that there are no blood abnormalities other than a low platelet count, and no physical signs other than bleeding.
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