Haemophilia

 __ //(sometimes spelled Haemophilia)// __ **__ Inheritance __** Hemophilia is an **__X-linked disorder__**, thus it is carried on the X chromosome. Obviously, it is a **__recessive sex-linked trait__**. About 70% of individuals with hemophilia inherited the disease. The other 30% suffered from a spontaneous genetic mutation, making them the first in the family with the disease. **__ Symptoms __** When someone has hemophilia, their __**blood is unable to clot**__. This causes __**bleeding for long periods**__, as the lack of clotting takes away any mechanism to stop the bleeding. In fact, a hemophiliac may bleed so bad that they end up **__dying__** from the condition. Additionally, internal bleeding in the joints can lead to severely painful **__arthritis__**. These __**internal hemorrhages**__ can be triggered at any time, even when the person is merely bumped into or just softly hit. The symptoms do not always show right away. While males with hemophilia may **__bleed heavily after circumcision__**, some children may not experience the effects until some sort of accident or surgery. Signs of obvious hemophilia, as opposed to normal bleeding include: **__bleeding in the mouth from a__ __cut or losing a tooth__**, **__nosebleeds for no apparent reason__** , <span style="color: rgb(0,128,0);">**__heavy bleeding from relatively minor cuts__** , and <span style="color: rgb(0,128,0);">__**bleeding that refuses to stop**__ after a long period of time. While the aforementioned examples all cite external bleeding, there are also several signs of serious internal bleeding. These include <span style="color: rgb(0,128,0);">**__blood in urine__** (from the kidneys or bladder) and <span style="color: rgb(0,128,0);">**__blood in feces__** (from the intestines or stomach). The most serious symptom of hemophilia is <span style="color: rgb(0,128,0);">**__bleeding in the brain__**. Signs of this include seemingly <span style="color: rgb(0,128,0);">**__interminable headaches or neck pain__**, repeated <span style="color: rgb(0,128,0);">__**vomiting**__ , <span style="color: rgb(0,128,0);">**__behavioral changes__** , <span style="color: rgb(0,128,0);">__**lethargy**__ , spontaneous <span style="color: rgb(0,128,0);">**__weakening of limbs__** (causing <span style="color: rgb(0,128,0);">__**walking** **difficulty**__ ), <span style="color: rgb(0,128,0);">**__double vision__** , <span style="color: rgb(0,128,0);">**__seizures__**. <span style="font-size: 13pt; color: rgb(0,0,255); line-height: 115%;"> http://www.pathguy.com/lectures/hemophilia.jpg <span style="color: rgb(255,0,0);">**__ Diagnosis __** <span style="color: rgb(0,0,255);">Doctors will diagnose hemophilia after many <span style="color: rgb(6,121,6);">**__blood tests__** to determine if clotting factors are missing, and, if so, which ones. If a person knows they are a carrier, they can easily have their newborn tested immediately after birth. The blood for these tests is either drawn from the umbilical cord or from the newborn’s vein. If a family has a history of hemophilia, then they should seek a <span style="color: rgb(6,121,6);">**__genetic counselor__** and request <span style="color: rgb(6,121,6);">**__prenatal testing__**. <span style="color: rgb(255,0,0);">**__ Prognosis __** <span style="color: rgb(0,0,255);">The prognosis for hemophilia is <span style="color: rgb(13,94,13);">**__generally good__**. Most hemophiliacs, if treated, live near <span style="color: rgb(13,94,13);">**__normal lives__** as long as they avoid injury. This is a great improvement from before treatments were invented. For example, in the 1950s 60% of hemophiliac males did not live to see adulthood. Unfortunately, <span style="color: rgb(13,94,13);">**__death can still be a major complication__**, be it from massive blood loss or severe internal hemorrhaging in places such as the brain. There are still other possible effects. For example, continued bleeding in the joints can lead to <span style="color: rgb(13,94,13);">**__chronic joint deformities__**, but this can generally be treated by an orthopedic specialist. In the past, hemophiliacs were susceptible to blood-borne illnesses such as <span style="color: rgb(13,94,13);">**__AIDS__**. However, this has been almost unheard of since the 1980s. <span style="color: rgb(255,0,0);">**__ Treatment __** <span style="font-size: 13pt; color: rgb(0,0,255); line-height: 115%;">The main treatment for hemophilia is <span style="color: rgb(1,76,1);">**__replacement therapy__**. This involves giving or replacing the clotting factor that is too low or missing. Clotting factor VIII is slowly dripped or injected into a vein. The clotting factors given by doctors are made from purified human blood, but it is possible to utilize replacement therapy at home by using <span style="color: rgb(1,76,1);">**__recombinant clotting factors__**. Taking these factors regularly will prevent constant bleeding. There are, however, other possible treatments, especially for those with only mild hemophilia. <span style="color: rgb(1,76,1);">**__Desmopressin__** (DDAVP) is a man-made hormone that stimulates the release of stored factor VIII. <span style="color: rgb(1,76,1);">**__Antifibrinolytic medicines__** keep clots from breaking down, and they are generally used in conjunction with replacement therapy. There is also extensive research being done to perfect <span style="color: rgb(1,76,1);">**__gene therapy__**, a method that would ideally correct the defective genes and cure the disorder. While it may not yet be an accepted treatment, it has made great progress in recent years as researchers continue to test it in clinical trials. <span style="color: rgb(255,0,0);">**__ Statistics __** <span style="color: rgb(0,0,255);"> http://img.tfd.com/GEM/gem_0003_0003_0_img0332.jpg <span style="font-size: 124%; color: rgb(255,0,0);"> <span style="color: rgb(255,0,0);">**__ Other information __** <span style="font-size: 13pt; color: rgb(77,157,77); line-height: 115%;">Hemophilia has played a role many times throughout history. >>>
 * <span style="color: rgb(0,0,255);"><span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Symbol;"> Currently there are about <span style="color: rgb(13,94,13);">**__17,000 people__** diagnosed with hemophilia in the U.S. <span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Symbol;">
 * <span style="color: rgb(0,0,255);"> About <span style="color: rgb(13,94,13);">**__1 in 5,000 boys__** are born with this disorder, while it very rarely occurs in females.
 * <span style="color: rgb(0,0,255);"> <span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Symbol;"> About <span style="color: rgb(13,94,13);">**__400 babies__** <span style="color: rgb(1,71,1);"> are born with this condition annually. <span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Symbol;">
 * <span style="color: rgb(0,0,255);"> Despite being <span style="color: rgb(13,94,13);">**__<span style="color: rgb(13,94,13);">extremely rare <span style="color: rgb(1,60,1);"> __**, it is the <span style="color: rgb(13,94,13);">**__most common<span style="color: rgb(1,60,1);"> __** X-linked genetic disease. <span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Symbol;">
 * <span style="font-size: 13pt; color: rgb(0,0,255); line-height: 115%;">Hemophilia is observed in all ethnic and racial groups, although statistics show a slight prevalence in the <span style="color: rgb(13,94,13);">__**Chinese population**__.
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;">Russian Czar Nicholas II’s son Alexei had the disease, as did many members of royalty descended from Queen Victoria.
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;">Alexei’s disease that foreshadowed sure death made the Romanovs lack an heir to the throne (Nicholas II’s other three children were girls).
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;">Czarina Alexandra’s seclusion from Russia to care for Alexei was the subject of much public outrage.
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;"> Nicholas II could not find any treatment for his son, so he employed Rasputin, a mystic that seemed to make Alexei better. Eventually Rasputin’s influence in the inner circle grew. <span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Wingdings;">
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;"><span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Wingdings;"> These three things, all effects of Alexei Romanov’s hemophilia, led to dissatisfaction with the government and eventually the Bolshevik Revolution.
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;"><span style="font-size: 13pt; color: rgb(23,54,93); line-height: 115%; font-family: Symbol;"> Ryan White was a hemophiliac who got HIV from contaminated blood treatment.
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;">AIDS was widely misunderstood, as it had only previously been seen in the homosexual community.
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;">After being expelled from school White became the poster child for HIV-infected people, as he was the first person not to get it from homosexual activities.
 * <span style="font-size: 10pt; color: rgb(77,157,77); line-height: 115%;">His activism led to the Ryan White Care Act, which provided for AIDS research, as well as the acceptance of other HIV-positive figures like Magic Johnson

http://pages.intnet.mu/rasputin/pics/NickyAlexei.jpg http://www.ikm.jmu.edu/Buttsjl/ISAT493/Hemophilia/hemophiliaprognosis.html <span style="display: block; font-size: 11pt; color: rgb(108,14,14); line-height: 115%; text-align: center;"> http://www.colorado.edu/intphys/Class/IPHY3430-200/image/hemophilia.jpg
 * __<span style="font-size: 12pt; color: rgb(23,54,93);">Czar Nicholas II and his Hemophiliac Son Alexei __ __<span style="font-size: 12pt; color: rgb(244,72,244);">Hemophiliac AIDS Activist Ryan White __ **
 * __Tracing Hemophilia through Queen Victoria's Pedigree__**

**__Sources__** : http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_signs.html http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_diagnosis.html http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_treatments.html http://www.ucsfhealth.org/childrens/medical_services/cancer/hemophilia/conditions/hemo/diagnosis.html http://www.ikm.jmu.edu/Buttsjl/ISAT493/Hemophilia/hemophiliaprognosis.html http://kidshealth.org/parent/medical/heart/hemophilia.html http://emedicine.medscape.com/article/210104-overview


 * __Comments__**

Good information but maybe separate it a little biit so it is easier to read - sst