Hemophilia ppt
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This document discusses hemophilia, an inherited bleeding disorder caused by mutations in genes coding for blood clotting factors. It describes the history and genetics of the disease, including that hemophilia is X-linked recessive and mostly affects males. The main types are hemophilia A caused by factor VIII deficiency and hemophilia B caused by factor IX deficiency. Symptoms range from mild to severe bleeding. Treatment involves replacement of the missing clotting factor through therapies like fresh or concentrated plasma.
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Hemophilia
HemophiliaIbrahim khidir ibrahim osman
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Haemophilia is a rare inherited bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) or IX (hemophilia B). The document discusses the history, types, signs and symptoms, inheritance, and treatment of hemophilia. It was first described in 1803 and is often called the "disease of kings" because Queen Victoria was a carrier who passed it on to descendants across Europe. Hemophilia A is the most common type and is treated with clotting factor replacement therapy or desmopressin.Heamophilia
HeamophiliaWaliullah Wali
油
Hemophilia is a common hereditary coagulation disorder due to deficiency or reduce activity of clotting factor VIII or clotting factor IX.
This disorder is a X- linked recessive disorder.
Types:
Hemophilia A- deficiency of clotting factors VIII
Hemophilia B- deficiency of clotting factors IX
Hemophilia C- deficiency of clotting factors XI
Parahaemophilia- deficiency of clotting factor V
Causes of hemophilia
Hemophilia has a sex-linked recessive inheritance.
In most cases Hemophilia caused by a mutation in a gene that encodes for one of the clotting factors .
Since the hemophilia gene is located on the X chromosome, Hemophilia usually occurs in males, and Female is the carrier of hemophilia.
Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows:
Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
Desmopressin (DDAVP)
Antifibrinolytic Medicines
Vaccinations- hepatitis A and B.
Gene Therapy
Gene Therapy
New Drugs for Hemophilia treatment
New Drugs for Hemophilia treatment
Bangladesh perspectives
Bangladesh would have 10800 hemophiliacs.
But, initially the patients does not concern about hemophilia.
Patients are usually diagnosed only after bleeding episode and sometimes the episode are causes serious consequences.
Conclusion
Primary diagnosis with the success of gene therapy and availability of the new bioengineered products the prospect of the hemophiliacs will be brighter in near future.
Hemophilia
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Hemophilia is a genetic bleeding disorder caused by mutations in genes responsible for blood clotting factors VIII, IX or XI. This leads to prolonged bleeding from cuts or wounds. There are three main types - hemophilia A is the most common type caused by factor VIII deficiency. Hemophilia B or Christmas disease results from factor IX deficiency. Hemophilia C is a rare form caused by factor XI deficiency. Treatment involves replacing the missing clotting factor through infusions to control bleeding. Complications can include joint damage and life-threatening internal bleeding if not properly managed.Hemophilia by Suhasis Mondal
Hemophilia by Suhasis MondalDr. Suhasis Mondal
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This document discusses hemophilia, including:
1. Hemophilia is an inherited bleeding disorder caused by deficiencies in coagulation factor VIII or IX.
2. There are two main types - Hemophilia A caused by factor VIII deficiency and Hemophilia B caused by factor IX deficiency.
3. Treatment involves replacing the missing clotting factor through products derived from plasma or recombinant sources to control bleeding and prevent joint damage. Regular prophylactic treatment starting in early childhood has been shown to significantly reduce long-term joint complications.Hemophilia Presentation 
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This document provides an overview of hemophilia, a genetic bleeding disorder caused by a defect in blood clotting factors. It discusses the physical, mental, and emotional characteristics of hemophilia. The genetic source is a defect on the X chromosome, so it primarily affects males. Treatment involves replacing the missing clotting factor through concentrates from donor blood or produced in a lab. Some interesting facts noted are that Queen Victoria passed it to descendants and the life expectancy was previously only 11 years.Hemophilia : causes, symptoms, diagnosis and treatment
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Hemophilia is a genetic bleeding disorder in which body loses the ability to stop bleeding due to low levels or absence of proteins known as clotting factors which are necessary for clotting of blood. Hemophilia leads to excessive bleeding.
Hemophilia
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Hemophilia is a hereditary bleeding disorder caused by a deficiency of specific clotting factors, which prevents normal blood clotting. The two main types are hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include excessive bleeding, easy bruising, and bleeding into joints. It is usually passed from mother to son and is treated through replacement of the deficient clotting factor. Nursing care focuses on prevention of injury, control of bleeding episodes, and prevention of joint damage.Hemophilia
Hemophiliafitango
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Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.Hemophilia 
Hemophilia MR. JAGDISH SAMBAD
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Hemophilia is a genetic bleeding disorder caused by mutations affecting blood clotting factors VIII or IX. It impairs the body's ability to control bleeding. Hemophilia A is more common, affecting about 1 in 5,000-10,000 male births. Symptoms include excessive bleeding after injuries or surgery, frequent nosebleeds, and bleeding into joints or muscles. Treatment involves replacing the missing clotting factor through infusions to prevent or treat bleeding episodes. Nursing care focuses on emotional support, administering clotting factor treatments, controlling bleeding, preventing joint damage, and educating patients.Haemophilia
Haemophiliajagan vana
油
Hemophilia is a genetic bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is inherited through the X chromosome and primarily affects males. Symptoms include bleeding into joints or muscles after injury or surgery. Treatment involves replacing the missing clotting factor through infusions of factor concentrates. Management also focuses on preventing joint damage through exercise and avoiding high-risk activities. Researchers are working on gene therapies as a potential cure.Hemophilia
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I apologize, I do not see any faces in the provided text. The document appears to be about hemophilia, a genetic bleeding disorder. It discusses causes, classifications by severity, management strategies, and dental considerations for treating patients with hemophilia. However, there are no images included that I could identify faces in.Sickle cell 
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Sickle cell disease is a genetic disorder that causes red blood cells to take on a sickle shape during periods of low oxygen. It is most common among those of African descent and is caused by a mutation in the beta-globin gene. The sickling of red blood cells leads to hemolytic anemia, damage to blood vessels, and painful vaso-occlusive crises in the bones, lungs, and other organs. Treatments include blood transfusions, hydroxyurea to increase fetal hemoglobin levels, antibiotics to prevent infection, and pain management. Future treatments may involve stem cell transplants or gene therapy.Bio chem presentation on hemophilia
Bio chem presentation on hemophiliaAnnie Boodoo-Balliram
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Haemophilia is a bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is inherited through the X chromosome and primarily affects males. Symptoms include prolonged bleeding both internally and externally, especially into joints and muscles. Diagnosis involves measuring factor levels in the blood. Treatment focuses on replacement of the missing clotting factor through medicines or transfusions to prevent or stop bleeding.Hemophilia
Hemophiliakopilaray
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Hemophilia is a genetic bleeding disorder caused by deficiencies in clotting factors VIII or IX. The main symptoms are prolonged bleeding after injury or surgery and bleeding into joints or muscles. There are three main types - A, B, and C - defined by which clotting factor is deficient. Treatment involves replacing the missing clotting factor through infusions of plasma-derived or recombinant factor concentrates. Management also focuses on preventing bleeding episodes and complications through measures like RICE, immobilization, exercise, and infection control.Paediatric Hemophilia
Paediatric HemophiliaDr_Alizada
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Hemophilia is an inherited bleeding disorder caused by deficiencies in specific clotting factors. There are three main types - A, B, and C - which are caused by deficiencies in factors VIII, IX, and XI respectively. Children with hemophilia experience heavy, uncontrollable bleeding from minor injuries or spontaneously. Treatment involves replacing the missing clotting factor through infusions to prevent bleeding complications. With careful management including factor replacement before activities or procedures, many children with hemophilia can live healthy lives.Hemophilia
Hemophiliaquelz
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Hemophilia is a genetic disorder that impairs the body's ability to control blood clotting. It is caused by mutations in genes that code for proteins essential for blood clotting. The two main types are hemophilia A, caused by a factor VIII deficiency, and hemophilia B, caused by a factor IX deficiency. Hemophilia is diagnosed through family history, blood tests, and bleeding symptoms that can range from mild bruising to heavy internal bleeding. Treatment focuses on replacing the missing clotting factor through infusions or drugs like desmopressin. Hemophilia affects about 1 in 5,000 male births.Von Willebrand Disease
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Introduction of von Willebrand disease
Types of VWD
Symptoms of VWD
Diagnosis of VWD
Treatment of VWD
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Von willebrand's diseaseEkta Patel
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This document summarizes von Willebrand disease, an inherited bleeding disorder caused by decreased levels or function of von Willebrand factor. The main types are type 1, the most common, with low von Willebrand factor levels; type 2 with abnormal von Willebrand factor function; and type 3 where it is absent. Symptoms range from mild to severe bleeding. Diagnosis involves tests of von Willebrand factor antigen, activity, and structure. Treatment focuses on replacing missing clotting factors or stabilizing clots. Complications can include anemia or death from bleeding if not managed.Von Willebrand Disease
Von Willebrand Diseasefitango
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Von Willebrand Disease is the most common油hereditary油bleeding disorder; roughly 1 in every 100 people suffers from the disease. People who suffer from VWD have blood that does not clot properly.油
Normally when a person is injured and starts to bleed, the von Willebrand factor in the blood attaches to small blood cells called platelets. This helps the platelets stick together to form a clot at the site of the injury and stop bleeding. When a person has VWD, the clot might take longer to form or not form the way it should and bleeding might take longer to stop. This can lead to heavy, hard-to-stop bleeding. Although rare, the bleeding can be severe enough to damage joints or internal organs, or even be life-threatening.油
http://www.nlm.nih.gov/medlineplus/plateletdisorders.html#cat1油
http://www.cdc.gov/ncbddd/vwd/facts.html油Student Work Hemophilia
Student Work Hemophiliajeremyschriner
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Hemophilia is a genetic bleeding disorder caused by a defect in the genes responsible for blood clotting factors VIII or IX. It is usually inherited and affects boys more than girls. Symptoms include prolonged bleeding after injuries or medical procedures. Treatment involves replacing the missing clotting factor through infusions of donated blood products. Current research is developing new formulations of clotting factors that can be stored at room temperature to improve accessibility.Thalassemia 
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The document discusses thalassemia, a group of inherited blood disorders characterized by reduced or absent globin chains. It covers the basics of alpha and beta thalassemia including genetic basis, classification, clinical outcomes, complications, and management approaches like transfusions, chelation therapy, splenectomy, and immunizations. Key points include the varying severity of alpha and beta thalassemia syndromes depending on which globin chains are affected, the risk of iron overload and related organ damage without proper chelation therapy, and the goal of splenectomy to reduce transfusion needs in severe cases.Hemophilia (a) - Pediatrics
Hemophilia (a) - Pediatricspediatricsmgmcri
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Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is passed from mothers to sons and manifests as prolonged or excessive bleeding from minor injuries. The document discusses the definition, incidence, pathophysiology, genetics, clinical manifestations including hemarthrosis and treatment including factor replacement of hemophilia. It is called the "Royal Disease" because Queen Victoria was a carrier who introduced the gene into European royal families, including the Russian Tsars, affecting heirs to those thrones.Hemophilia
Hemophiliabesnik rrmoku
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Hemophilia is a genetic bleeding disorder caused by low levels of certain clotting factors in the blood. There are two main types, hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include prolonged bleeding after injuries or surgery. Treatment involves replacing the missing clotting factor through transfusions or injections. Nurses play an important role in managing hemophilia through emotional support, applying pressure to bleeding sites, administering clotting factor treatments, restricting activity after bleeding, and educating patients.Thalassemia
ThalassemiaIbrahim khidir ibrahim osman
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This document discusses thalassemia, a blood disorder characterized by reduced or absent globin chain synthesis. It was first described in 1925 and there are two main types: alpha and beta thalassemia. Alpha thalassemia is more common in Southeast Asia while beta is seen around the Mediterranean. Thalassemia is classified by genotype and clinical severity. Thalassemia major, the most severe form of beta thalassemia, presents in the first year of life with anemia, failure to thrive, and bone changes if untreated. The pathophysiology involves accumulation of unbound globin chains and hemolysis leading to complications like iron overload.Hemophilia 
Hemophilia DeepshikhaRathore3
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Hemophilia is an inherited bleeding disorder caused by mutations in genes responsible for blood clotting factors. It affects males more commonly and is passed through mothers who are carriers. There are two main types - Hemophilia A caused by lack of factor VIII and Hemophilia B caused by lack of factor IX. Diagnosis involves screening and clotting factor tests. Treatment focuses on replacing the deficient clotting factor through transfusions or concentrates to prevent bleeding, though the disease currently has no cure.Thalassemia
ThalassemiaDr. Maimuna Sayeed
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Halima, an 11-year-old girl with consanguineous parents, presented with not growing well, gradual pallor, and abdominal distension for 7 years. On examination, she was severely pale with facial dysmorphism and hepatosplenomegaly. Her history included repeated blood transfusions. She was diagnosed with hereditary hemolytic anemia. The seminar discussed thalassemia, including the types of thalassemia, clinical features, investigations, complications, and management with a focus on blood transfusions and chelation therapy.Haemophilia in children
Haemophilia in childrenManori Gamage
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This document summarizes haemophilia in children. It is an inherited bleeding disorder caused by deficiencies in clotting factors VIII or IX. The severity depends on factor levels, with <1IU/dl being severe. Children experience bleeding into joints and muscles. Treatment involves replacing missing clotting factors, either prophylactically or in response to bleeding. Complications include developing inhibitors against replacement factors. Management requires addressing bleeding episodes and inhibitor eradication through immunosuppression.Thrombocytopenic purpura
Thrombocytopenic purpura忰愕 悋忰
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This document discusses thrombocytopenic purpura (TP), a condition characterized by low platelet count and bruising. It describes the main types of TP, including immune (idiopathic) TP, thrombotic thrombocytopenic purpura, and drug-induced TP. Epidemiology and pathogenesis are covered. A case study demonstrates the clinical presentation and diagnosis of a 12-year-old male with immune thrombocytopenic purpura. Treatment options are outlined, including steroids, immunoglobulins, thrombopoietin receptor agonists, and splenectomy. Differential diagnoses and references are also provided.Bleeding disorders copy
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Indian Dental Academy: will be one of the most relevant and exciting training center with best faculty and flexible training programs for dental professionals who wish to advance in their dental practice,Offers certified courses in Dental implants,Orthodontics,Endodontics,Cosmetic Dentistry, Prosthetic Dentistry, Periodontics and General Dentistry.
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Haemophilia is a bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is inherited through the X chromosome and primarily affects males. Symptoms include prolonged bleeding both internally and externally, especially into joints and muscles. Diagnosis involves measuring factor levels in the blood. Treatment focuses on replacement of the missing clotting factor through medicines or transfusions to prevent or stop bleeding.Hemophilia
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Hemophilia is an inherited bleeding disorder caused by deficiencies in specific clotting factors. There are three main types - A, B, and C - which are caused by deficiencies in factors VIII, IX, and XI respectively. Children with hemophilia experience heavy, uncontrollable bleeding from minor injuries or spontaneously. Treatment involves replacing the missing clotting factor through infusions to prevent bleeding complications. With careful management including factor replacement before activities or procedures, many children with hemophilia can live healthy lives.Hemophilia
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Hemophilia is a genetic disorder that impairs the body's ability to control blood clotting. It is caused by mutations in genes that code for proteins essential for blood clotting. The two main types are hemophilia A, caused by a factor VIII deficiency, and hemophilia B, caused by a factor IX deficiency. Hemophilia is diagnosed through family history, blood tests, and bleeding symptoms that can range from mild bruising to heavy internal bleeding. Treatment focuses on replacing the missing clotting factor through infusions or drugs like desmopressin. Hemophilia affects about 1 in 5,000 male births.Von Willebrand Disease
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Normally when a person is injured and starts to bleed, the von Willebrand factor in the blood attaches to small blood cells called platelets. This helps the platelets stick together to form a clot at the site of the injury and stop bleeding. When a person has VWD, the clot might take longer to form or not form the way it should and bleeding might take longer to stop. This can lead to heavy, hard-to-stop bleeding. Although rare, the bleeding can be severe enough to damage joints or internal organs, or even be life-threatening.油
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The document discusses thalassemia, a group of inherited blood disorders characterized by reduced or absent globin chains. It covers the basics of alpha and beta thalassemia including genetic basis, classification, clinical outcomes, complications, and management approaches like transfusions, chelation therapy, splenectomy, and immunizations. Key points include the varying severity of alpha and beta thalassemia syndromes depending on which globin chains are affected, the risk of iron overload and related organ damage without proper chelation therapy, and the goal of splenectomy to reduce transfusion needs in severe cases.Hemophilia (a) - Pediatrics
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Hemophilia is a genetic bleeding disorder caused by low levels of certain clotting factors in the blood. There are two main types, hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include prolonged bleeding after injuries or surgery. Treatment involves replacing the missing clotting factor through transfusions or injections. Nurses play an important role in managing hemophilia through emotional support, applying pressure to bleeding sites, administering clotting factor treatments, restricting activity after bleeding, and educating patients.Thalassemia
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Halima, an 11-year-old girl with consanguineous parents, presented with not growing well, gradual pallor, and abdominal distension for 7 years. On examination, she was severely pale with facial dysmorphism and hepatosplenomegaly. Her history included repeated blood transfusions. She was diagnosed with hereditary hemolytic anemia. The seminar discussed thalassemia, including the types of thalassemia, clinical features, investigations, complications, and management with a focus on blood transfusions and chelation therapy.Haemophilia in children
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4. hemophiliaa.pptx
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Hemophilia is known as the "Royal Disease" because Queen Victoria of England was a carrier who passed the gene onto many of her descendants. Her son Leopold had hemophilia and died of a brain hemorrhage, and through her daughters the gene spread to the royal families of Spain and Russia. This helped popularize knowledge of the disease throughout Europe and gave it the name "Royal Disease".Hemophilia
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Haemophilia is a bleeding disorder caused by a deficiency of coagulation factor VIII or IX. It is inherited in an X-linked recessive pattern, affecting mostly males. The two main types are haemophilia A (factor VIII deficiency) and haemophilia B (factor IX deficiency). Symptoms include prolonged bleeding from minor injuries or surgery. Joint bleeding is also common and can lead to joint damage. Treatment involves replacement of the missing clotting factor, either on-demand for bleeds or through prophylaxis to prevent bleeds. Other treatments include desmopressin or antifibrinolytics. Complications include the development of inhibitors against the replacement factors.Haemophilia
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Bleeding for too long? Seek for Help immediately. Blood clotting problem is real and one can be assisted.haemophilia-170526085552 (1).pdf
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Hemophilia is a hereditary bleeding disorder caused by deficient or defective clotting factors, mainly factor VIII (hemophilia A) and factor IX (hemophilia B). It is transmitted through females to males via an X-linked recessive pattern. Symptoms include prolonged bleeding after injury and spontaneous bleeding in joints/muscles. Diagnosis involves measuring clotting factor levels. Management focuses on preventing bleeding episodes through factor replacement therapy, gene therapy, desmopressin, and other treatments like cryoprecipitate and fibrin glue. Hemophilia was first documented in the 2nd century AD and is known as the "royal disease" due to its prevalence among European royalty.Hemophilia
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Hemophilia is a rare bleeding disorder caused by inherited deficiencies in coagulation factors. The most common types are hemophilia A caused by factor VIII deficiency and hemophilia B caused by factor IX deficiency. Symptoms include easy bruising, bleeding into joints and muscles, and life-threatening bleeding in closed spaces or from trauma. Treatment involves replacement of the missing clotting factor through medications like desmopressin for mild cases or clotting factor concentrates for more severe bleeding. The genetics of hemophilia are X-linked and carriers can have mild bleeding tendencies due to lyonization.Heamophilia sumit
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This document summarizes the history and treatment of hemophilia. It notes that the Jews were the first to recognize hemophilia and enacted circumcision laws accordingly. Queen Victoria was a carrier whose descendants spread it further. Early treatments involved blood transfusions but storage was not possible. Cryoprecipitate improved treatment in the 1960s while factor concentrates in the 1970s infected many with HIV. Recombinant DNA technology allowed safer treatment from the 1990s onward. Hemophilia is caused by defects on the X chromosome and can be diagnosed through factor level tests. Current research aims to develop gene therapies.Hemophilia villaester
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university of education LAHORE Pakistan
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The document discusses haemophilia A, which is an X-linked bleeding disorder caused by a deficiency in coagulation factor VIII. It provides details on the genetics and molecular basis of the condition, describing how the factor VIII gene is located on the X chromosome and can be affected by inversions or point mutations. Signs and symptoms involve bleeding episodes in joints, muscles or other tissues. Diagnosis involves testing for prolonged activated partial thromboplastin time and prothrombin time. Treatment relies on regular infusions of replacement factor VIII to control bleeding, though some patients develop inhibitors requiring alternative treatments.haemophilia.pptx
haemophilia.pptxSaniaSaeed56
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Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII or IX. It is transmitted through females to males and results in longer bleeding times after injuries or spontaneous bleeding in joints and muscles. Diagnosis involves measuring clotting factor levels, with types A and B defined by deficiencies in factors VIII and IX respectively. Management focuses on preventing bleeding episodes through local measures, replacement therapy using concentrates of missing clotting factors, and drugs like desmopressin that stimulate factor release.Bleeding Disorders: Causes, Types, and Diagnosis 
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1) Bleeding disorders can involve vascular, platelet, or coagulation disorders and cause symptoms like bruising, bleeding, and prolonged bleeding from minor cuts.
2) Important bleeding disorders discussed include hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency), von Willebrand disease (a disorder of the von Willebrand clotting factor), and fibrinogen deficiency.
3) These disorders are diagnosed through tests of bleeding time and clotting factor levels and activity. Treatment involves replacing the missing clotting factor through products like cryoprecipitate, desmopressin, or clotting factor concentrates.hemophilia blood disorder hemophilia.pptx
hemophilia blood disorder hemophilia.pptxKniranda Mayanglambam
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Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII or IX. The most common symptoms are heavy, uncontrollable bleeding from minor injuries or spontaneously in joints or muscles. There are three main types - Hemophilia A caused by factor VIII deficiency is most common, Hemophilia B caused by factor IX deficiency, and Hemophilia C caused by factor XI deficiency. Treatment focuses on replacement of the missing clotting factor through transfusions or medication to prevent or stop bleeding episodes.HEMOPHILIA : introduction, definition,etiology, pathophysiology, diagnosis,tr...
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HAEMOPHILIA: introduction, definition, etiology, pathophysiology, diagnosis, treatment, prevention genetic basis of hemophilia
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Hemophilia is a genetic disorder that impairs the body's ability to control blood clotting. It is caused by insufficient or defective clotting factors, which are proteins in blood that control bleeding. Hemophilia is usually inherited in an X-linked recessive pattern and is more common in males than females. Treatment involves replacing the missing clotting factor to prevent excessive bleeding.Hemophilia
Hemophilia. 从舒
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Hemophilia is a bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) or IX (hemophilia B). The key manifestations are hemarthrosis, hematomas, and intracranial bleeding. It is inherited in an X-linked recessive pattern and treatment involves replacing the missing clotting factor through plasma-derived or recombinant sources. While gene therapy holds promise for a potential cure, current treatment focuses on factor replacement to prevent or treat bleeding episodes.Hemophilia
HemophiliaDiana
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Hemophilia is a disorder of the blood clotting system that prevents blood from clotting normally and stopping bleeding. It is caused by deficiencies in certain clotting factors, especially factors VIII and IX. Hemophilia is located on the X chromosome and is predominantly found in males, as they only have one X chromosome. Symptoms include abnormal bleeding and bruising, especially into joints and muscles. There is no cure for hemophilia, but regular injections of the missing clotting factor can control symptoms. Patients must take precautions to prevent injury but are encouraged to exercise and participate in normal activities.Recently uploaded (20)
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Hemophilia ppt
- 1. FUNDAMENTALS OF GENETICS Presented to: dr. shaheen Shahzad Presented by: zuha tariq (960-FBAS/BSBT/F-17) Minahil(960-FBAS/BSBT/F-17) Laraib zamir (960-FBAS/BSBT/F-17)
- 2. HEMOPHILIA
- 3. INTRODUCTION Inherited bleeding disorder. Blood doesnt clot properly. Haemo means blood. Philia means infection.
- 4. HISTORY 10TH CENTUARY Abulcasis described families whose men died of bleeding. 1803 John Conrad Otto recognized a hereditary disorder in which affected males were called bleeders. 1828 Fredrich Hopff described a term Haemorrhaphilia
- 5. 1924 A Finnish doctor discovered a bleeding disorder which was called Von Willebrand Disease. 1937 Patek and Taylor discovered anti hemophilic globulin. 1947 Pavlosky found Haemophilia A and Haemophilia B as separate disease.
- 6. THE ROYAL DISEASE Haemophilia is also called The Royal Disease because Queen Victoria was a carrier. Her daughters passed the mutated genes onto the members of royal families of Germany, Spain and Russia.
- 7. CAUSES OF HAEMOPHILIA Haemophilia is caused by genetic mutation. The mutation involves changes in genes that code for proteins that is essential in blood clotting process. These proteins are called blood clotting factors.
- 8. HOW BLEEDING STARTS AND STOPS
- 9. GENETICS OF HEMOPHILIA Mostly X-Linked Recessive Trait. In males only one allele is sufficient to cause hemophilia. In females a mutation would have to occur in both alleles of the gene to cause hemophilia.
- 10. INHERITENCE
- 11. LEVELS OF SEVERITY MildHaemophilia: Unusual bleeding with surgery and tooth extraction. Moderate Haemophilia: Spontaneous bleeding, delayed oozing after minor injury. Severe Haemophilia: Spontaneous joint or a deep muscle bleeding.
- 12. TYPES OF HAEMOPHILIA Abnormality of factor VIII X-Linked RecessiveHaemophilia A Disturbance in factor IX X-Linked RecessiveHaemophilia B Reduction in factor XI Autosomal RecessiveHaemophilia C
- 13. HAEMOPHILIA A X-Linked Recessive Inheritance. Abnormality in factor VIII. 1 in 1000 males. Internal or external bleeding. Muscle and joints haemorhages. Digestive tract and cerebral. haemorhages.Bleeding Time Test. Factor VIII
- 14. HAEMOPHILIA B X-Linked Recessive Trait. Disturbance in factor IX. First recognized in 1952, also known as Christmas Disease. Bruising, Hematuria, Epistaxis and Hemarthrosis. Bleeding Scores. Coagulation Screening Test. Factor IX
- 15. HAEMOPHILIA C Autosomal Recessive Disorder. Also known as Plasma Thromboplastin Antecedent (PTA) deficiency or Rosenthal Syndrome. It occurs 1 in 100, 000 Males Oral bleeding, blood in urine, post partum bleeding and tonsils bleeding. Prothrombin time test. Factor XI
- 16. SIGNS & SYMPTOMS Soft tissue bleeds and bruising. Muscles bleeding. Neck swelling. Buttock bleeding. Bleeding in brain.
- 17. DIAGNOSIS Before pregnancy. After pregnancy. Chorionic Villus Sampling (CVS) Amniocentesis After birth.
- 18. PEDIGREE ANALYSIS HH Hh hh hh hh
- 19. TREATMENT Prevention: Control bleeding episodes Prevent joint degeneration Avoid contact sports Avoid IM injection
- 20. REPLACEMENT THERAPY Fresh whole blood Fresh Frozen Plasma Factor VIII or IX Concentrate
- 21. GENE THERAPY
- 22. DESMOPRESSIN Desmopressin (DDAVP) is used to help stop bleeding in patients with von Willebrand's disease or mild hemophilia A. DDAVP causes the release of von Willebrand's antigen from the platelets and the cells that line the blood vessels where it is stored. Von Willebrand's antigen is the protein that carries factor VIII.
- 23. RICE