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Summer Health II Research Project

Haley Xue

on 14 July 2011

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Transcript of Hemophilia

Hemophilia WHAT IS HEMOPHILIA? Causes prolonged bleeding after minor & major injuries
Individuals that have hemophilia lack one or more of the proteins necessary in the clotting process
Sex-linked genetic disorder By: Haley Xue
Summer Health II Prothrombin Fibrin (thread like protein) & red blood cells harden to form scab Thrombin
(enzyme) cut/wound/injury Fibrinogen Thromboplastin with Ca++ The Clotting Process Types of Hemophilia: There are two types of hemophilia: Hemophilia A and Hemophilia B, both of which result because of missing clotting factor. Hemophilia A usually male since the disorder is x-linked
bleeding in joints, with pain and swelling
spontaneous bleeding
Gastrointestinal tract and urinary tract hemorrhage
Prolonged bleeding from cuts, tooth extraction, and surgery Characteristics/symptoms: Hemophilia B Also known as Christmas disease
caused by a lack of blood clotting factor IX (enzyme), without which the blood cannot clot properly to control bleeding caused by a lack of blood clotting factor VIII, without which the blood cannot clot properly to control bleeding
More common than B Effects: Patients with hemophilia can generally lead a normal life
Hemophiliacs are at more risk for hemorrhaging
Have to be careful when playing sports and to avoid injury
Internal bleeding can easily be fatal for people with hemophilia Diagnosis Low serum factor VIII activity
Normal prothrombin time
Normal bleeding time
Normal fibrinogen level
Prolonged partial thromboplastin time (PTT) Low factor IX
Normal prothrombin time
Normal bleeding time
Normal fibrinogen level
Prolonged partial thromboplastin time (PTT) Coagulation Process Coagulation may be initiated by either of two pathways.

The Intrinsic pathway is initiated by events that occur within the lumen of blood vessels. The Intrinsic pathway requires only elements (clotting factors, Ca++, platelet surface etc.) found within, or intrinsic, to the vascular system.
The Extrinsic pathway requires Tissue Factor (tissue thromboplastin), a substance which is "extrinsic to", or not normally circulating in the vessel. Tissue Factor is released when the vessel wall is ruptured.
Normal clotting time is about 2-8 minutes, hemophilia causes clotting to be prolonged three times normal Treatment Main treatment is replacement therapy--giving/replacing the clotting factor that is deficient
The lacking factor is injected directly in the bloodstream
Mild hemophilia: replacement therapy is usually not needed; a medicine called desmipressin is given to people with hemophilia A to raise levels of factor VIII (not helpful for patients with hemophilia B), wears off with chronic use, so it is usually prescribed before certain situations
Moderate hemophilia: only need treatment when bleeding occurs
Extreme hemophilia: usually need long-term or shorter term preventive therapy to prevent bleeding that could result in permanent damage to joints, muscles, or other parts of the body.
Usually need a hepatitis B vaccine because of frequent blood transfusions, increased risk of HIV Sex-linked Genetic Disorders hemophilia is a x-linked recessive trait
most patients with hemophilia are male since females need two defective x chromosomes
A female that is a carrier (one defective X chromosome) ~ male children have 50% chance of having hemophilia, female children have 50% of being a carrier
All female children of a male with hemophilia will be carriers (or have hemophilia if mom is carrier/hemophiliac) The Royal Disease Hemophilia is often referred to as the "Royal Disease" since Queen Victoria was a carrier, and many of her descendants had hemophilia. the end. Royal Pedigree Chart July 13, 1900 Dr. Rasputin Buckingham Palace Queen Victoria 81 F Grigory Yefimovich Rasputin - “Curse of the Coburgs”: This curse was supposed to have originated in the early 19th century, when a Coburg prince had married a Hungarian princess named Antoinette de Kohary. A monk, as a member of the Kohary family, envied the wealth inherited by the couple from the bride’s father, and cursed future generations of Coburgs with the disease.

- Through marriages between children of the monarchs of Europe, hemophilia spread to Russia, Prussia, and Spain.

- Hemophilia B appears to have disappeared in the current European blood line. - Queen Victoria's hemophilia gene was either a mutation of her own genes or a mutation in her father's sperm; new research suggests the presence of an abnormal splicing site on the factor IX gene, which is responsible for causing hemophilia B.
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