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by sfrenkel
Last updated 8 years ago

Health & Fitness

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FACTS:-Gene:HFE-More than 20 mutations in the gene cause type one hemochromatosis-two particular mutations are responsible for most cases. Each mutation changes one of the amino acids use to make the HFE protein. (1)Cys282TYr: replaces the amino acid crysteine with the amino acid tyrosine as position 282. (2)His63Asp:replaces the amino acid histidine with the amino acid aspartic at position 63.-Causes the body to absorb too much iron from the food eaten. -Excess iron is stored in the organ (especially the liver, heart and pancreas)SYMPTOMS:j-oint paint fatigue -abdominal pain -loss of sex driveLater symptoms: -arthritis,-liver disease -diabetes -heart abnormalities -skin discoloration.TREATMENTS:-blood removal: doctors can treat haemochromatosis by regularly removing blood from the body

How to check if you have it: blood tests (serum transferrin saturation:This test measures the amount of iron bound to a protein or serum ferritin:This test measures the amount of iron stored in your liver)-Additional checks: liver fucntion test, MRI, testing for gene mutations and removing a sample of liver tissue for testing

Short (p) arm of chromosone 6 at position 21.3


Stephanie Frenkel

Genetics project

Inherited in an autosomal recessive pattern (both copies of the gene in each cell have mutations)

FACTS CONTINUED:-Hemochromatosis is one of the most common genetic disorders in people descended from Western Europeans: More than 30 percent carry these genes-Gastroenterologist Doctors treat hemochromatosis-In hartford (Connecticut Gastroenterology Hartforc, CT)-It is a missense mutation


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