Scenario :
You are a third-year medical student doing a rotation in Internal Medicine. A 42-year old male patient comes in complaining of joint pain. He also says that he has been feeling a little fatigued lately and has had some abdominal pain. Upon physical examination, you find that he has hepatomegaly and skin pigmentation. A blood test is done and shows that the patient may have hereditary hemochromatosis (HH), which causes his body to absorb too much iron. You are asked to look-up further information on this condition.
Go to OMIM ( http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits ):
Search the database for hereditary hemochromatosis.
Use the item titled “+235200 Hemochromatosis; HFE” to answer the following questions
Study Questions:
1. What type of disorder is classic hemochromatosis, what gene is mutated, and where is it located?
2. Why is HH considered to be a preventable form of cancer?
3. How many types of HH are there? What is the proposed reason why there is more than one type of HH?
4. There may be a possible relationship between alpha-one antitrypsin (AAT) deficiency and HH. What are the possible clinical outcomes if someone has both AAT deficiency and HH?
Now try the website www.genetests.org .
Go to the GeneReviews, search Hereditary Hemochromatosis, and use the Review article to answer the last 2 questions
5. What are the screening and confirmatory tests available for HFE-associated hemochromatosis? What is the difference between a screening test and a confirmatory test?
6. How is HH usually treated? What is the life expectancy after treatment? |
