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Hypertryptophanemia is a rare autosomal recessive [2] metabolic disorder that results in a massive buildup of the amino acid tryptophan in the blood, with associated symptoms and tryptophanuria (-uria denotes 'in the urine'). [3] [4] Elevated levels of tryptophan are also seen in Hartnup disease, [5] a disorder of amino acid transport. [6]
Immune thrombocytopenic purpura (ITP), also known as idiopathic thrombocytopenic purpura or immune thrombocytopenia, is an autoimmune primary disorder of hemostasis characterized by a low platelet count in the absence of other causes.
The incorrectly glycosalated fibrinogen is dysfunctional and may cause pathological episodes of bleeding and/or blood clotting. [5] Congenital hypodysfibrinogenemia, an inherited disorder in which low levels of fibrinogen composed at least in part of a dysfunctional fibrinogen may cause pathological episodes of bleeding or blood clotting. [6]
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in small blood vessels throughout the body. [2] This results in a low platelet count, low red blood cells due to their breakdown, and often kidney, heart, and brain dysfunction. [1]
[15] [16] [17] Patients are usually designated as having a low or high risk of bleeding or developing blood clots based on their age, medical history, blood counts and their lifestyles. Low risk individuals are usually treated with aspirin , whereas those at high risk are treated with hydroxycarbamide , interferon-α or anagrelide .
Beta-thalassemia (β-thalassemia) is an autosomal dominant blood condition that results in the reduction of hemoglobin production. The cause for the disorder is related to a genetic mutation of the HBB gene. This gene is responsible for providing the instructions to produce beta-globin; one of the major components of hemoglobin.
Former Golden Bachelor Gerry Turner is dealing with a scary health crisis. The 72-year-old former reality television star revealed thathe is currently battling an incurable and slow form of bone ...
Children with common variable immunodeficiency (CVID) are also at a higher risk of developing a lymphoproliferative disorder. [ citation needed ] Some disorders that predispose a person to lymphoproliferative disorders are severe combined immunodeficiency (SCID), Chédiak–Higashi syndrome , Wiskott–Aldrich syndrome (an X-linked recessive ...