i have a presentation about the haemophilia disease from genetics point of view. Please help.?

Question

I need all the information about haemophilia disease. but better all relates to genetics and scientific point of view, not health care.

Answer 1

Your presentation about hemophilia would cover quite a wide range of informations. You are the best to know what aspects you want to be highlighted in your presentations. You are the best to choose the points you want to elaborate. Hence I give few points and will recommend some excellent links which I believe will be beneficial for the preparation of your presentation. Goodluck!

Hemophilia A is caused by a variant form of factor VIII that is present in normal levels but lacks a clotpromoting property.The incidence is 60 to 80 persons per million population. Of cases, 70% have been found to have a sex-linked recessive nature; that is, the disease is carried on the X chromosome at location Xq28. Factor VIII circulates in plasma in very low concentration and is normally bound to vWF. The source of factor VIII production is uncertain, but the liver is thought to be a significant source because hemophilia A can be corrected by liver transplantation. A female carrier mating with a normal man would be predicted to pass the disease to half her sons. Likewise, a male hemophiliac would have all normal sons and all carrier daughters. The remaining 25% to 30% of cases of the disease are believed to result from a spontaneous genetic abnormality. The familial form has a remarkable consistency of severity from generation to generation, although the degree of severity has considerable variation.

Hemophilia B (Christmas Disease) is a deficiency of factor IX activity. Its genetic pattern and clinical findings are indistinguishable from those of hemophilia A, but its incidence is only a fifth that of hemophilia A. Factor IX is a vitamin K–dependent glycoprotein. Its deficiency is diagnosed by a factor IX assay, usually after the factor VIII:C assay is found to be normal. The replacement schedule for factor IX is similar to that for hemophilia A, but a purified factor IX concentrate or recombinant factor IX preparation is used.

Hemophilia C or Factor XI deficiency occurs at a prevalence of 1 per 1 million in the general population and 1 per 500 births in Ashkenazi Jewish families. Factor XI is the only component of the contact phase system of coagulation (factor XII, prekallikrein, and high-molecular-weight kininogen) that is associated with excessive bleeding complications when a deficient state exists. Factor XI deficiency is diagnosed in the laboratory by a prolonged aPTT, normal PT, and decreased factor XI activity ascertained in a specific quantitative clotting assay (normal range, 60 to 130%). The clinical bleeding tendencies in factor XI deficiency are less severe than the tendencies seen with severe hemophilia A or B and are not correlated with the extent of the deficiency.

Take a look at the following links-The first two are in powerpoint presentations:
http://factorviia.com/images/ss5/factorVIIaMOApost111501.ppt#477,24,Recombinant
http://factorviia.com/images/ss1/factorVIIaslides.ppt#413,1,
http://ed.fnal.gov/help/97/peretz/inherit/inherit6.html

Answer 2

Hemophilia is a disease that affects the bloods ability to clot.
From a genetic point of view it is more common in males because they have half a chromosome less then females. If a mother has hemophilia and she has a son then the son WILL have it too, but if it is a girl and her father does not then she wont have it. (Unless the father has a ressive gene for hemophilia then there is a 25% chance she will get it.) Because Hemophilia is a ressesive gene that is carried on the XY chromosome in most cases it will be covered in a girl. Colorblindness works the same way.

Answer 3

I had acouple uncles who had hemophilia. They are gone now, but that isn't why. I know you can live a normal life with this disease, but when my one uncle had it, he lived with my grandparents so they could keep an eye on him. He had to take certain medications to clot his blood. And even then, if he bumped into something, he still had to be sent to the emergency room because he was hemorrhaging under his skin and they were afraid he was bleeding to death. I don't know a lot about new information, I can only tell you what I remember about how it was with my one uncle. I never knew the other uncle.( He was gone WAY before I was ever born.) I know it's genetic but doesn't always mean you can pass it on. I found out I'm not a carrier through blood work I had done. I know boys can only get hemophilia. I hope this has helped. Good luck.

Answer 4

You plan on getting all of that from the idiots on this website? Try a google search. Or wikipedia.

Here's what I do know. This disease is what is called "sex-linked." It is carried on the x chromosome and it is recessive. What that means is that men are more likely to get the disease than women. Women have two x-chromosomes. Because the disease is recessive, they would have to get the gene for the disease from both parents. Men only have 1 x-chromosome, meaning that they only have to get the disease from their mother. Women can be "carriers" of the disease, meaning that they have only 1 of the genes so they don't get the disease but they can give it to their children. If a man has the disease his daughter will automatically be a carrier, but will only actually get the disease if her mom is also a carrier or has the disease. Often the pattern that appears is that a man has it, and then his grandson through his daughter will have it.

Answer 5

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