For the following diseases, describe the best technique for diagnosing them.  Please make sure you include how you would tell someone with the disease from someone without the disease.  A.    Hemochromatosis, a recessive genetic disease caused by mutations in the HFE gene, which helps sense iron levels.  Mutations in the HFE gene lead to the absorption and storage of excess iron, damaging the liver, heart, and pancreas.  The HFE protein is still produced, but does not function properly.  B.     Factor V Leiden thrombophilia is caused by a point mutation at position 1691 in exon 10 of the Factor V clotting factor gene that changes an arginine into a glutamine.  This change removes one of the cleavage sites for activated protein C and leads to an increased tendency to clot.  C.     Babesiosis is an infection by the parasite Babesia microti that is carried by deer ticks, similar to Lyme disease.  The parasite infects red blood cells in humans.

Case Studies In Health Information Management
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Chapter3: Informatics, Analytics, And Data use
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For the following diseases, describe the best technique for diagnosing them.  Please make sure you include how you would tell someone with the disease from someone without the disease. 

A.    Hemochromatosis, a recessive genetic disease caused by mutations in the HFE gene, which helps sense iron levels.  Mutations in the HFE gene lead to the absorption and storage of excess iron, damaging the liver, heart, and pancreas.  The HFE protein is still produced, but does not function properly. 

B.     Factor V Leiden thrombophilia is caused by a point mutation at position 1691 in exon 10 of the Factor V clotting factor gene that changes an arginine into a glutamine.  This change removes one of the cleavage sites for activated protein C and leads to an increased tendency to clot. 

C.     Babesiosis is an infection by the parasite Babesia microti that is carried by deer ticks, similar to Lyme disease.  The parasite infects red blood cells in humans.

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