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Haemophilia
Hemophilia is a hereditary bleeding disorder caused by a deficiency in clotting factors VIII or IX, primarily affecting males due to its X-linked recessive inheritance. It is characterized by prolonged bleeding and can lead to serious complications such as joint and muscle bleeding. Management includes prevention strategies, replacement therapy, and gene therapy to control bleeding episodes.
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Haemophilia
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- 2. CONTENTS 1. What ishemophilia? 2. Brief History 2.Types 3. Incidence 4. Genetics 5. Clinical presentation 6. Investigations 7. Management
- 3. What is Hemophilia? Hemophiliais a common hereditary coagulation blood disorder due to deficiency or reduced activity of clotting factor VIII or clotting factor IX. This disorder is a X- linked recessive disorder. Hemophilia is a bleeding disorder that slows down the blood clotting process. It’s transmitted via females to men who are sufferers. Female who carry a single mutated gene, are generally asymptomatic and not affected. People who have Hemophilia often have longer bleeding after some sort of contact to injury. People who have severe Hemophilia start to have spontaneous bleeding in the joints and muscles all around their bodies. Hemophilia is more common in males than females.
- 4. History of Hemophilia ◦Best known of the hereditary bleeding disorders since 2nd century AD, (Talmud, Jewish rabbinical Tradition and Laws manuscripts). ◦ First coined by Schonlein in 1820s. ◦ Originally termed “Haemorraphilia” i.e. love for haemorrhages but over time contracted to Hemophilia. ◦ Hemophilia is often called the disease of kings, because it was carried by many members of Europe’s royal families. Queen Victoria I of England was a carrier of haemophilia. Queen Victoria I
- 5. Inheritance of Hemophilia ◦Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two changed copies of this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ◦ In X-linked recessive inheritance, a female with one changed copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of clotting factor VIII or clotting factor IX, which is generally enough for normal blood clotting. However, about 10 percent of carrier females have less than half the normal amount of one of these clotting factors; these individuals are at risk for unusual bleeding, particularly after an injury, surgery, or tooth extraction.
- 6. Haemophilia Spread AmongEuropean Royal Families
- 7. Causes of Haemophilia 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.
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- 10. Types: Hemophilia A-deficiency of clotting factor VIII (X linked recessive) Hemophilia B- deficiency of clotting factors IX (X linked recessive) Hemophilia C- deficiency of clotting factors XI (Autosomal recessive) Parahaemophilia- deficiency of clotting factor V (Autosomal recessive) TYPES of Haemophilia Disease Factor deficiency Inheritance Hemophilia A VIII (8) X linked recessive Hemophilia B IX (9) X linked recessive Hemophilia C XI (11) Autosomal recessive Parahemophilia V (5) Autosomal recessive
- 11. Hemophilia A ◦ Alsoknown as classic hemophilia or Factor VIII Deficiency ◦ People with this type of hemophilia have low levels of a blood clotting factor called figure 8 (FVIII). It’s the most common. ◦ Mild Hemophilia A: Do NOT have spontaneous bleeding but unusual bleeding occurs with surgery and tooth extractions. People are usually diagnosed with this in later life. ◦ Moderate Hemophilia A: spontaneous bleeding, delayed oozing after minor injury, and usually diagnosed before they are 5 to 6 years old. ◦ Severe Hemophilia A: Spontaneous joint or deep muscle bleeding. Usually diagnosed within first two years of life.
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- 13. Hemophilia B ◦ Alsoknown as Christmas disease or Factor IX Deficiency ◦ People with this type of hemophilia have low levels of a blood clotting factor called figure 9 (FIX). ◦ The two different types of hemophilia are caused by permanent gene changes (mutations). Mutations in the FVIII gene cause Hemophilia A. Mutations in the FIX gene cause Hemophilia B.
- 14. Signs and symptomsof Haemophilia ◦ Perpetuated oozing after injuries ◦ repeated bleeding after first bleeding ◦ Easy or spontaneous bruising ◦ Prolonged bleeding The most frequent symptom for Hemophilia’s types A&B is spontaneous joint bleeding. COMPLICATIONS OF HAEMPHILIA: Hemmorrhage in iliopsoas muscles Joints Intracranial bleeding
- 15. How is Hemophiliadiagnosed? Hemophilia A&B are diagnosed by measuring factor clotting activity. Individuals who have Hemophilia A have low factor VIII clotting activity. Individuals who have hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII (F8) gene finds a disease-causing mutation in up to 98 percent of individuals who have hemophilia A. Genetic testing of the FIX gene finds disease-causing mutations in more than 99 percent of individuals who have hemophilia B. Genetic testing is usually used to identify women who are carriers of a type FVIII or FIX gene mutation, and to diagnose hemophilia in a fetus during a pregnancy. It is sometimes used to diagnose individuals who have mild symptoms of hemophilia A or B. ◦ Platelet count: Normal ◦ Bleeding time: Normal ◦ PT: Normal ◦ Clotting time & PTT: Prolonged ◦ Factor VIII or Factor IX assay: Decreased Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows: Mild: >5% Moderate: 1-5% Severe: <1%
- 17. Management Strategies ◦ Preventionof bleeding episodes. ◦ Replacement therapy. ◦ Gene Therapy ◦ Desmopressin ◦ Other therapies
- 18. 1. Preventions Control BleedingEpisodes • Local measures: apply direct pressure; elevate or ice compress • Epistaxsis sit up lean forward
- 19. Preventions cont… Prevent jointdegeneration • Immobilize joint during acute bleeding • Progressive exercise • Avoid prolong immobility Avoid contact sports Avoid IM injections
- 20. 2. Replacement therapy ◦Fresh whole blood ◦ Whole plasma ◦ Fresh Frozen Plasma ◦ Cryoprecipitate ◦ Factor VIII or IX Concentrate ◦ Recombinant Factor VII (Novo-Seven): to bypass factor VIII in the coagulation pathway
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- 23. 4. Desmopressin Action: stimulatesthe release of stored factor VIII and Von Willebrand factor. Von Willebrand factor carries and binds factor VIII, which then can stay in the blood stream longer. -Administration: Injection or Nasal spray.
- 24. 5. Other Treatments EACA(e –amino caproic acid) Action: Antifibrinolytic delays clot lysis Use: Adjuvant therapy for dental procedures Fibrin Glue: Action: Contains fibrinogen, thrombin and factor XIII. Placed in the site of injury to stabilize clot. Use: Dental procedures and after circumcision Activated Prothrombin complex concentrates ◦ Have increased amounts of activated FVIIa, factor X & thrombin. ◦ APCC are effective even in patients with high titer inhibitors. ◦ risk of thrombosis. Polyethylene glycol conjugation (Pegylation) ◦ Increases size, decreases renal excretion, extends half life. Polysialic acid polymers ◦ Forms a “watery cloud” around the target molecule ◦ Biodegradable.
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- 26. Thank You Foryour Attention!! That Bleeding for long? Seek for help immediately!!!
- 27. References: 1. Dr SuhasisMondal “Hemophlia ppt” (Dr R. Ahmed Dental College and Hospital). 2. https://www.slideshare.net/bhatch457/hemophilia (accessed 20 April 2017 at19h00). 3. https://www.cdc.gov/ncbddd/hemophilia/ (accessed 20 April 2017 at 20h00).
Editor's Notes
- #5 The New Testament of the Bible mentioned a woman who had hemorrhaged for 12 years, before touching the hem of Jesus’ garment, when she was healed. Abulcasis, or Abu Khasim, a 10th century Arabian physician, described families whose male relatives died from uncontrolled bleeding after trauma. In 1803, John Conrad Otto, a Philadelphia physician, was the first to publish an article recognizing that a hemorrhagic bleeding disorder primarily affected men, and ran in certain families. He traced the disease back to a female ancestor living in Plymouth, New Hampshire, in 1720. Otto called the males “bleeders.” In 1813, John Hay published a paper in the New England Journal of Medicine proposing that affected men could pass the trait for a bleeding disorder to their unaffected daughters. Then in 1828, Friedrich Hopff, a student at the University of Zurich, and his professor Dr. Schonlein, are credited with coining the term “haemorrhaphilia” for the condition, later shorted to “haemophilia.” In 1926 Finnish physician Erik von Willebrand published a paper describing what he called “pseudohemophilia,” a bleeding disorder affecting men and women equally. It was later named von Willebrand disease. In 1957 Inga Marie Nilsson and researchers at the Malmo University Hospital in Sweden determined that VWD was caused by low levels or deficient Von Willebrand factor. In 1947, Dr. Alfredo Pavlovsky, a doctor in Buenos Aires, Argentina, distinguished two types of hemophilia in his lab—A and B. Factor I deficiency was first described in 1920. Factors II and V (5) deficiency were identified in the 1940s. The 1950s saw an explosion of work on rare factor deficiencies, as deficiencies of FVII, X, XI and XII were first recognized. In 1960, FXIII deficiency was described.
- #7 A Royal Disease Hemophilia is sometimes referred to as “the royal disease,” because it affected the royal families of England, Germany, Russia and Spain in the 19th and 20th centuries. Queen Victoria of England, who ruled from 1837-1901, is believed to have been the carrier of hemophilia B, or factor IX deficiency. She passed the trait on to three of her nine children. Her son Leopold died of a hemorrhage after a fall when he was 30. Her daughters Alice and Beatrice passed it on to several of their children. Alice’s daughter Alix married Tsar Nicholas of Russia, whose son Alexei had hemophilia. Their family’s entanglement with Rasputin, the Russian mystic, and their deaths during the Bolshevik Revolution have been chronicled in several books and films. Hemophilia was carried through various royal family members for three generations after Victoria, then disappeared.