THE SCIENCE OF PROGRESS Meet the Millers Jack and Jill Miller, parents of 4 grown children Carol Mary David Mark
THE SCIENCE OF PROGRESS Meet David Miller David Miller is 46 years old. He was recently diagnosed with diabetes and high blood pressure. He has also noticed increased fatigue and that his skin has developed a “bronzy” color. His physician put these symptoms together and diagnosed David with hemochromatosis.
THE SCIENCE OF PROGRESS What is Hemochromatosis? Hemochromatosis is a genetic disease that causes the body to absorb too much iron (iron overload). The extra iron is stored throughout the body and can cause organ damage and other serious health problems. Symptoms include weakness, fatigue, joint pain, type 2 diabetes, heart disease, infertility, and a bronzy skin tone. Hemochromatosis is caused by a DNA mutation in the HFE gene. It is inherited in a recessive pattern.
THE SCIENCE OF PROGRESS It’s a family matter A diagnosis of an inherited genetic condition can have important implications for the entire family. David’s sister, Mary, is very concerned about her disease risk. She visits her physician to discuss the chances that she will develop hemochromatosis.
THE SCIENCE OF PROGRESS Family Health History Mary’s physician wants to know more about her family. He asks her about the health of her family members. Family health histories are an important part of a person’s medical record.
THE SCIENCE OF PROGRESS Family Health History Pedigree basics: 1. Each individual is represented by a shape Circles for females Squares for males 2. Connecting horizontal lines show child- bearing relationships 3. Connecting vertical lines show children 4. If a person is deceased, a diagonal line is drawn through their shape Sometimes the information is recorded on a pedigree, a diagram showing family relationships.
THE SCIENCE OF PROGRESS Family Health History Each person’s health information is written below their symbol. Age, or age at death (if deceased) Any known medical issues or diagnoses Age at diagnosis Symptoms Any medical tests and results If an inherited condition is noted in a family history, it is important to determine the cause of the condition and the inheritance pattern. This will help you identify which family members are at risk for the disease. 45 years old Asthma diagnosed at 20 High blood pressure diagnosed at 44
THE SCIENCE OF PROGRESS It’s your turn Use the information written on page 15 of the student manual to complete Mary’s family health history form.
THE SCIENCE OF PROGRESS It’s your turn 73 years old High blood pressure diagnosed at 60 68 years old Arthritis diagnosed at 63 Skin cancer removed at 55 48 years old Recent fatigue and joint pain 46 years old Recent diagnosis of hemochromatosis, heart disease and diabetes 42 years old Good health 36 years old Good health
How much do you know about your own family health history? In 2004, Thanksgiving was declared National Family History Day. Next Thanksgiving, or the next time you gather with your family, take the opportunity to learn more about your own family health history!
Web-based resources for gathering family medical information http://www.hhs.gov/familyhistory/portrait/index.html https://familyhistory.hhs.gov/fhh-web/home.action http://www.mayoclinic.com/health/medical- history/HQ01707 http://www.cdc.gov/Features/FamilyHealthHistory
In a real life situation… 1. Mary’s physician takes her family health history and determines that she may be at risk for hemochromatosis. 2. Blood samples are taken from members of the Miller family for genetic testing to determine who has the genetic risk factors for the disease. 3. While waiting on her test results, Mary uses the internet to learn more about the disease. 4. Genetic testing for hemochromatosis is performed in a laboratory to identify mutations in the HFE gene. 5. Family members with positive test results meet with a genetic counselor to learn more about the disease, inheritance, treatment and resources. 6. Treatment is begun for family members with the disease, to improve or prevent complications. Lesson 1 Lesson 2 Lesson 3 Lesson 4-6 Lesson 6 Lesson 7 In the module…