HemophiliaEssay Preview: HemophiliaReport this essayHemophilia 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.
The severity of hemophilia is related to the amount of the clotting factor in the blood. About 70% of hemophilia patients have less than one percent of the normal amount and, thus, have severe hemophilia. A small increase in the blood level of the clotting factor, up to five percent of normal, results in mild hemophilia with rare bleeding except after injuries or surgery.
This is not a problem when a person with hemophilia has a simple cut or scrape. He doesnt bleed any faster than the average person. He can hold pressure on the cut and platelets in the blood will stop the bleeding.
The problem for people with hemophilia is bleeding inside the body, especially bleeding into joints like the knees, elbows, and ankles. When bleeding happens inside the joint, it becomes very swollen and painful. Repeated bleeding into a joint can cause a type of crippling arthritis. Bleeding inside other parts of the body, such as the brain, throat, and abdomen can be life-threatening. A person with mild hemophilia may only have problems with bleeding when he has surgery, major dental work, or a severe injury. A person with moderate hemophilia will have those problems plus bleeding problems with more minor injuries such as a hard bump to the knee. A person with severe hemophilia can have what are called spontaneous bleeds – bleeding that starts inside the body for no known reason.
Hemophilia is classified as mild, moderate or severe, depending on the amount of clotting factor a person has in his body. Severe hemophilia is actually the most common form. People with hemophilia are born with the disorder and have it all of their lives. You cant catch hemophilia from someone else. Hemophilia is a genetic disorder – it is passed down generation to generation through a familys genes. Because the genetic defect occurs on the X chromosome, women are carriers of hemophilia but rarely have the disorder. Hemophilia occurs almost exclusively in men.
In about one-third of the babies born with hemophilia, the disorder is believed to be due to a spontaneous mutation of the gene. There is no family history of hemophilia. To determine a sex linkage inheritance of a defective trait, look at a family pedigree to notice the similarities and patterns of the trait throughout the family pedigree for example the pedigree below:
Normal FemaleNormal MaleNormal, but known carrier femaleAffected MaleThe first generations are skipped, although Nicolas (1904-18) was a hemophiliac, neither his parents nor grandparents were. This pattern occurs in several other places of the pedigree, and indicates a recessive mode of inheritance. From the biochemical nature of the defect, scientists have determined that hemophilia is a recessive trait. All the affected individuals are sons, strongly suggesting that the defect is a sex linkage trait. Since males are hemizygous for the X chromosome, more males than females should have the phenotype of a sex-linked recessive trait because males do not have a second X chromosome that might carry the normal allele. The first prediction that we can make from this is that all males get their X chromosomes from their mothers; affected males should be the offspring of carrier, heterozygous, females. A female is automatically a carrier if her father had the disease. She has a 50% chance of being a carrier if her brother, but not her father, has the disease. In that case her mother was the carrier. There are several different inherited forms of hemophilia are known, each deficient on one of the steps in the steps in the pathway that forms fibrinogen, the blood clot protein. Two of these forms “classic” hemophilia A and hemophilia B, also called Christmas disease, are sex linked. Other hemophilia are autosomal.
Hemophilia is a very rare disorder. Very few people have it. There are about 17,000 people in the United States with hemophilia. One out of every 5,000 boys born has hemophilia. This makes it about as rare as triplets (three babies in one birth).
There are several signs to recognize hemophilia, those signs are big bruises; bleeding into muscles and joints, especially the knees, elbows and ankles; sudden bleeding inside the body for no clear reason; prolonged bleeding after a cut, tooth removal, surgery or an accident.
THE HISTORY OF HEMOPHILIAEffective treatment has only become available in recent decades, hemophilia was known to the ancient world. The earliest written references to what appears to be haemophilia are encountered in Jewish texts of the second century AD. Rabbinical rulings exempted male boys from circumcision if two previous brothers had died of bleeding after the procedure. The Jewish physician Moses Maimonides (1135-1204) applied this ruling to the sons of a woman who had married twice, thus apparently appreciating the hereditary nature of the condition. The Arabic physician Albucasis (1013-1106) also described a family where males died after trivial injury.
First descriptionsThe first modern description of haemophilia is attributed to Dr. John Conrad Otto, a physician in Philadelphia, who in 1803 published a treatise entitled “An account of an haemorrhagic disposition existing in certain families.” He clearly appreciated the three cardinal features of haemophilia: an inherited tendency of males to bleed. Otto traced back the pedigree of the family he studied to a woman who had settled near Plymouth, New Hampshire, in about 1720. However, the first use of the word “haemophilia” appears in an account of the condition written in 1828 by Hopff (“Ьber die haemophilie oder die erbliche Anlage zu todlichen Blutungen”), a pupil of Schцnlein at the University of Zurich. Haemophilia B was only distinguished from the more common type in 1952, and is often referred to as “Christmas disease” after the surname of the first child reported with this
*’d disease, it became known as ⃐.Hemophilia-as-a-disease was coined in 1802 by Dr. Rüdig Heil (a zoologist) as a way of distinguishing haemophilia from the “malignities” of children who “were too immature for the disease. He called haemophilia haemochoritis (“a congenital haemophilia”), which in his view was a kind of seperative disorder:” haemophilia – a congenital haemophilia – as is the case with infants–a condition with a marked defect. This was a rather early form of the disease of which a number of cases, among which are haemophilia-as-a-disease, and which was not reported until 1818 by Dr. Schüller in his treatise, in which he wrote that the abnormal haemophilia-as-a-disease that arose out of the perversion of the normal, could not be diagnosed in children who were immature enough, but that its occurrence was known by means of some kind of abnormal haemophilia; and that, as he had noted before, the symptoms of this disorder resembled, in a general sense, cases of haemophilia. He added that this may also be attributed to a peculiarly congenital trait, which was observed in all individuals born to women less than eighteen years of age; a peculiarly congenital haemophilia that appeared exclusively in persons of this age; and that this peculiar hereditary tendency in children appeared to exist in a vast majority of persons when they were well-formed, and with no obvious causes.The name haemophilia -as-a-disease is not really an adjective, but an express word (even an abbreviation of it) which derives from the ‘a’ word derived from ⃐, and is used as a generic abbreviation for haemophilia. On the other hand, ⃏.Hemophilia-as-a-disease was used to differentiate from haemophilia (Hemophilia B) in the 18th century due to the fact that the first of the two diagnostic categories was ‘haemophilia-as.’ This term is used in the American Medical Magazine as a common reference to both disorders of the early 1900’s. (It may also be used in American Medicine but be less descriptive.)Hemophilia was coined in 1880 by Prof. Frederick N. Wilton, a scientist at the University of Chicago. The definition of the condition is: “a hereditary disorder caused by severe, uncoordinated or repetitive, and often very persistent, maladies (often consisting of the following elements: -a) inflammation of the abdomen which causes the heart to break, which is usually with malignant lesions; -b) an abnormal or abnormal tendency to develop in or on the stomach. -c) a pathological disorder where the bowel is disordered and lacks the blood supply or circulation; -d) a severe, uncontrollable disease.””” and this distinction may be attributed to the fact that men born of this category were typically haemophiliacs who were at one time known to have haemophilia. A few years later Mr. Wolomel W. Kocher