Login

Join for Free!
111304 members


Hemophilia

Human Anatomy, Physiology, and Medicine. Anything human!

Moderator: BioTeam

Hemophilia

Postby jonaslove23 » Wed Apr 07, 2010 1:01 am

I need lots of help with this, because I can't find any information anywhere. This is for my sophomore biology class, and its due tomorrow. I can't find half of the things that I need, so any help would be GREAT!

This is our paper, and what I have so far. The empty lines are the answers I need.

Human Genetic Disease Research

Choose a human genetic disease from the list on the back and find the following information:
Summarize in your own words. Only use terms that you understand.


Disease name: Hemophilia

Risk factors for this disease (ethnicity, gender, etc.):
Factors that may increase your chances of being born with hemophilia are: having a family history of hemophilia or other bleeding disorders, and being a male. Females are much less likely to be born with hemophilia than males.
How many per thousand births have this disease? (Cite source with details)
1.2 in 1,000

Inheritance pattern (include all that apply)
Sex-linked

Type of mutation (include all that apply)
Gene
Point mutation

Gene name/ Chromosome number/ Location:
Gene: F8 (coagulation factor VIII, procoagulant component)
Chromosome: 21
Location: base pairs 153,717,259 to 153,904,191

Specifically describe the mutation:
___________________________________________

Protein coded for:
___________________________________________

Describe the function of the normal protein:
The normal protein makes blood clot properly, which doesn’t cause any problems.

Describe the difference between the normal protein and the defective one:
___________________________________________

Symptoms of the disease:
Some symptoms of hemophilia are:
• Many large or deep bruises
• Joint pain and swelling caused by internal bleeding
• Unexplained bleeding or bruising
• Blood in your urine or stool
• Prolonged bleeding from cuts or injuries, or after surgery or tooth extraction
• Nosebleeds with no obvious cause
• Tightness in your joints

Explain how the genetic mutation causes the disease symptoms:
____________________________________________
jonaslove23
Garter
Garter
 
Posts: 1
Joined: Wed Apr 07, 2010 12:55 am

Postby david23 » Wed Apr 07, 2010 1:49 am

Wikipedia
david23
Coral
Coral
 
Posts: 430
Joined: Thu May 03, 2007 8:15 am


Return to Human Biology

Who is online

Users browsing this forum: No registered users and 2 guests

cron