Intro/History Glanzmanns disease also known as, Thombasthenia-Glanzmann is a rare disorder of blood platelets, which result in easy bruising and nosebleeds, and was first described in 1918. Glanzmanns disease is a congenital hemorrhagic disorder, meaning it's a bleeding disorder present at birth. Glanzmanns disease results from not having enough glycoprotein, a protein usually found on the surface of blood platelets. Platelets are small blood cells that are the first responders in the case of a cut or injury, they normally clump together to form a plug in the wound and stopped bleeding. Glanzmanns Disease
Glanzmanns disease is a hereditary disease. Glanzmanns disease has differing severity. In type I there is a severe less than 5% deficiency
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Platelet transfusions may be given to people who are having severe bleeding episode. Minor bleeding from sites that can be seen, such as teeth and gums can be controlled by a local application of thrombin. Nosebleeds may require nasal packing (cocaine has been used on packing material) as well as platelet transfusion. Antifibrinolytic drugs (rare) may help control bleeding and tooth decay. Heavy menstrual cycles may require hormonal therapy to help control bleeding. Patients are likely to require multiple transfusions during their lifetime; doctors try to avoid platelet alloimmunization. Prevention of alloimmunization is best accomplished by using leukocyte depleted blood products. The only way to accomplish blood products with leukocyte depletion is with mechanical filtration. Only filtered blood products should be given. Another attempt in preventing alloimmunization is the use of HLA- matched platelets. Patients should be vaccinated for hepatitis B, due to the risk of infection associated with multiple transfusions. Patients should always avoid medications that affect platelet functions, such as aspirin in known blood thinners like warfarin. They should also avoid any nonsteroidal anti-inflammatory drugs (NSAID) such as ibuprofen and naproxen. These drugs can prolong bleeding …show more content…
The defects seen in Glanzmann disease are split equally between glycoprotein IIb and glycoprotein IIIa.
References
McCartney CA, Paredes N, Chan AKC. Disorders of coagulation in the neonate. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi JI, eds. , Hematology; basic principles and practice 6th ed. Philadelphia, PA: Elsevier Saunders, 2012 chap. 152 www.nlm.nih.gov/medlineplus/ency/article www.nlm.nih.gov/medlineplus/encylopedia.html
Nurden AT, Pillois X, Wilcox, DA. Glanzmanns thrombasthenia: state of the art, and future directions. Semin Thromb Hemost. 2013; 39: 642-55 www.nci.nlm.nih.gov/pubmed 3/1/16 12:43pm
Updated January 27, 2015
Updated by: Yi-Bin Chen, MD
Leukemia/ bone marrow Transplant program, Massachusetts General Hospital, Boston, MA.
Reviewed by David Zieve, MD MHA, ISIA Ogilvie, PhD and the A.D.A.M editorial team.
Glanzmanns thrombasthenia. (2016, Jan. 18). Retrieved from www.ghr.nlm.nih.gov/condition/glanzmann-thrombasthenia.
Nurden, AT (2006). Glanzmanns thrombasthenia. Orphanet journal of rare diseases, 1 (10). Retrieved from
Avoid taking anti-inflammatory drugs, aspirin and herbal supplements: These products can increase the incidence of bleeding.
Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. It causes afflicted individuals to not be able to coagulate their blood very efficiently or at all when getting an injury in which blood is exposed either internally or externally. This disease can be very dangerous and fatal because major blood loss can occur if the patient has not received treatment.
There are many people that suffer from venous thromboembolism. Venous thromboembolism includes both deep vein thrombosis and pulmonary embolism. This is the third most common cause of vascular death after a myocardial infarction, also known as a heart attack, and stroke. This article examines the possibility of either full or low intensity anticoagulation therapy versus aspirin. This was a randomized study that consisted of 3,396 individuals who have venous thromboembolism. These individuals either received rivaroxaban, which is an anticoagulant, or 100 mg of aspirin once a day. The individuals in this study completed 6-12 months of anticoagulation therapy and were eligible for inclusion in the study if they were 18 years of age or older. The
Usually the decrease in the number of platelets results in bleeding inside the brain, bloody diarrhea, mucosal (inside mouth) bleeding, bruises, life-threatening bleedings, red spots on skin, and purplish skin due to bleeding underneath the skin.
When von Willebrand factor is insufficient or not operational appropriately because of structural defects, small blood cells called platelets cannot stick together properly, nor can they attach themselves normally to the blood vessel walls when an injury has occurred. The result is interfering with the clotting course, and uncontrolled bleeding may continue. VWD is the most common bleeding disorder, affecting up to 1% of the United States population. It is carried on chromosome 12 and occurs equally in men and women (National Heart, Lung, and Blood Institute,
A person with a normal platelet count has between 150,000 to 450,000 per each microliter of blood in the body. With Thrombocytopenia, patients have platelet counts that are less than 150,000 per microliter of blood. Platelets help to promote blood clotting. When a person receives a cut, or injures themselves, platelets come to the site of injury and bind to damaged vessel, thus causing a blood clot and helping to stop the bleeding that accompanies the injury (Williams). However, with a reduced platelet count, this function can be impaired. Patients can easily bruise or bleed due to even a slight bump, as well as experience nosebleeds. Bleeding gums are another symptom of Thrombocytopenia (MDS Foundation). Based on symptoms, doctors might decide to test a patient for Myelodysplastic
As the best of my knowledge I believe the two year old child is suffering from an inherited disorder called hemophilia. The Mayo Clinic describes hemophilia as a rare blood disorder that lacks sufficient blood clotting proteins. (Staff, B.M. ((n.d.)). Hemophilia. Retrieved September 27, 2016, from http://www.mayoclinic.org/disease-conditions/hemophilia/basics/treatment/con-20029824
Hemochromatosis is hereditary and the most common genetic disease in the U.S. This genetic disease is passed on
For the genetic abnormality at the root of this disease, it is an X-linked inborn error of the glycosphingolipid metabolic pathway. Typically it is an X linked inheritance pattern that is neither recessive or dominant, and is x linked in this family history as well. The metabolic defect is in in the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A), which catalyzes the hydrolytic cleavage of the terminal galactose from globotriaosylceramide (Gb3). This results in accumulation of globotriaosylceramide within lysosomes in cells, in the vascular
Etiology: von Willebrand disease is an inherited defect in the gene that controls von Willebrand factor which is a protein that plays a key role in your blood-clotting process. When von Willebrand factor is scarce or not functioning properly because of structural abnormalities, thrombocytes(platelets) cannot stick together properly, nor can they attach themselves normally to the blood vessel walls when an injury has occurred. The result is interference with the blood clotting process and
Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.
The Gauchers’ disease is described as the metabolism error that leads to the defect on the enzymes. This disease occurs during birth and the most common genetic disease among the Ashekenazi Jews. The disease leads to the weakening of the bones, anemia, platelet deficiency and enlarged spleen.
Hemolytic Disease of the newborn (HDN) is a disorder of the blood in the infant that results from incompatibility between the mothers blood and the fetus’s blood, and may be life threatening. In the case that the two bloods accidentally cross during pregnancy, the mother’s body produces antibodies that attack the fetal red blood cells; also known as erythroblastosis fetalis.
The last scenario and blood disorder is Spencer, who over the past several weeks is having more bruises, or ecchymosis, all over his body. After coughing this morning, Spencer noticed tiny red marks all around his eyes. Spencer is showing signs of thrombocytopenia. Thrombocytopenia is a condition of the blood in which the blood doesn’t clot properly because there are not enough platelets. This condition can be caused by many different things such as decreased platelet production, increased platelet
Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood. The entire antibody population fights against the blood to prevent the clotting factors from working properly.