Low platelet levels can result in severe bleeding episodes (hemorrhaging).
Episodes may be preceded or triggered by certain infections, such as viral illnesses (particularly digestive illnesses), surgery, stress, or other factors, such as intolerance to cow’s milk (see below). Episodes of thrombocytopenia are most frequent during the first two years of life. In individuals with TAR syndrome, the level of platelets in the blood goes up and down. The exact reason why megakaryocytes fail to develop into platelets is unknown. The normal maturation of megakaryocytes into platelets does not occur in individuals with TAR syndrome, causing the low levels of platelets, which may be referred to as (hypomegakaryocytic thrombocytopenia). Megakaryocytes normally develop into platelets. In TAR syndrome certain specialized cells in the bone marrow known as megakaryocytes are defective or improperly developed (hypoplastic). Platelets are specialized blood cells that clump together to form clots to stop bleeding. Most affected individuals have normal intelligence, are able live independently, and many have married and have had their own children.Īpproximately 90 percent of affected individuals develop symptoms related to low levels of the platelets in the blood during the first year of life. Some symptoms improve over time and may cause little or no problems in adulthood. Affected individuals will not have all of the symptoms listed below. The specific symptoms vary from patient to patient. A variety of additional symptoms also occur.
The two main findings are thrombocytopenia and radial aplasia. TAR syndrome can potentially affect multiple systems of the body, but it is especially associated with blood (hematological) and bone (skeletal) abnormalities. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.
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