Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those
3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?
According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family
Venous thromboembolism (VTE) is an epidemic that rain rapid in Australia and was a very big concern. The study of this sickness was a major Problem as it had affected the demographic area of Perth, Australia. The epidemic is a very big problem as VTE is connected with the trauma, surgery, and cancer and this sickness is caused while
Imagine having a sibling you have to be extra careful with on day to day basis. Imagine the terror you feel when a loved one begins to bleed uncontrollably and you do not know what to do. Imagine the confusion and frustration you feel when you are helpless to your sibling. Having a sibling with von Willebrand disorder changes how families go about their daily routines. Von Willebrand disorder affects 1 in every 100 people, making it the most common bleeding disorder. About 75% of all people with von Willebrand have type 1, including my sister. Von Willebrand disorder causes excessive bleeding, easy bruising, and pure panic for a family. Blood transfusions are used on people
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.
We measured a panel of prothrombotic risk factors (Table 1) and detected hyperhomocysteinemia, and 4 heterozygous gene mutations, including MTHFR C677T and A1298C, glycoprotein GP3A and Fibrinogen- β G/A-455. Electrocardiogram and chest x-ray were normal, as well as the remaining routine laboratory tests, including differential blood cell count, protrombin and partial thromboplastin times, serum glucose, creatinine, electrolytes, liver enzymes, calcium, vitamin B12 and folate. Anti-nuclear, anti–single-stranded DNA, anti–double-stranded DNA, anti-cardiolipin, anti–SS-A/B antibodies were negative. She was treated with dexamethasone 5mg twice daily and LMW heparin (enoxaparin 60 mg twice
Mutations lead to a genetic deficiency in clotting factor VIII, causing increased bleeding and affects males a majority of the time. HA can occur in homozygous females. 5-10% of patients with HA have dysfunctional proteins (factor VII) and 90% to 95% of HA cases are characterized by a quantitative deficiency pf factor VII. Patients usually experience bleeding episodes: the most serious bleeding sites include, joints, muscles, digestive tract, and brain. 30% of cases are caused by new mutations. Medications are prescribed to prevent bleeding episodes and for more severe cases blood coagulate and blood plasma treatments are
It inhibits thrombosis by inactivating co-factors Va, and VIIIa (Neyrinck, 2009). When deficient, Factor V can cause excessive blood clotting and Factor VIII, being an essential clotting factor, can cause blood to profusely move out of tissues once cut or damaged (Faust, 2001 and Yan, 2001). Thrombin may become limited, one reason being the decrease of plasma D-dimer, which again stimulates fibrinolysis (Bernard, 2001).
Venous thrombosis and arterial thrombosis are considered to be distinct pathophysiological processes due to their evident anatomical variances. With one having to deal with platelet activation while the other involving the clotting system activation, arterial thrombosis and venous thrombosis are similar yet vastly different when it comes to the processes that are performed for the body. These same processes that help the body have to be performed accordingly or the signs and symptoms begin to show. For instance, venous thrombosis can lead to Chronic Venous Insuffiency and other issues when a body part is congested. This is most commonly causes by valvular incompetence in the low-pressure superficial venous system; however, it can also be causes
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.
Factor V Leiden as named after the Dutch city Leiden in which it was discovered. Factor V Leiden is a genetic blood clotting disorder that results from a mutation of the Factor V gene. Most of the time you will inherit Factor V Leiden from your family. If kept under control blood clots are mostly harmless, but if left uncared you can have a piece of the blood clot break and enter your lung there it will cause serious damage like a heart attack or stroke.
Cerebral venous thrombosis (CVT) is a rare type of cerebrovascular disease, accounting for 0.5% of all strokes. The annual incidence of CVT ranges 3–4 cases per million populations CVT is a multifactorial disease, with at least one predisposing factor identified in 80% of patients, including hereditary thrombophilia, pregnancy and puerperium, postoperative state, intracranial or local infections and use of oral contraceptives. Genetic or acquired thrombophilia, identified in more than 20% of the CVT patients, is among the most frequent identified risk
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
Cancer patients with Factor V Leiden (rs6025), Factor VHR2 haplotype (rs1800595) prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), and factor XIII Val34Leu (rs5985) have a many fold increased risk for developing VTE compared to cancer patients without these hereditary risk factors [15,16]. A potential effect of polymorphisms in clotting factors on cancer risk would be relevant scientifically and clinically and have determining role in management and treatment of such patients. Studies have been undertaken in a number of populations for such risk assessments but no such study has been undertaken in Saudi population till date. With increased burden of Cancer in Saudi Arabia study of risk factors is highly warranted to decrease cancer associated mortality and morbidity and improve the quality of life of such patients. We shall genotype factor V Leiden (FVL), Factor VHR2 haplotype (FVHR2), prothrombin G20210A (PT G20210A), PAI-1 4G/5G, MTHFR 677C>T, and factor XIII Val34Leu (FXIII Val34Leu) in cancer patients and controls to identify these as risk