Name:___________________________________________________ Date:____________ Hour:_________

Case Study Genetic Disorders

Traits such as eye color, height, skin color, and weight are determined by genetics. This means that a
person inherits these traits from his or her parents. Like these traits, genetic diseases and disorders can also be
inherited from ones parents. However, the way in which a gene passes through a family depends upon which type
of trait it is.
Dominant vs. Recessive Traits:
Alleles are different versions of genes. During fertilization, when an egg cell combines with a sperm cell,
the newly formed baby receives one allele for each gene from the mother and one allele from the father.
Therefore, each individual has two alleles for each genetic trait. A dominant allele is represented by a capital
letter, and it is the form of the trait that is expressed. A recessive allele is represented by a lower-case letter,
and it is the form of the trait that is not expressed when the dominant allele is present. The only way that a
recessive trait can be expressed in an individual is if that person has two recessive alleles. If even one dominant
allele is present, the recessive allele will be masked.
Methemoglobinemia:
Methemoglobinemia is a blood disorder that is passed down through families. Methemoglobinemia is a
recessive disorder. This means that a child must inherit the same recessive allele from both parents in order to
have the disorder. This is a disease in which a high amount of a form of hemoglobin called methemoglobin is
produced. Hemoglobins are proteins found in red blood cells that are responsible for distributing oxygen to the
body. Unfortunately, methemoglobin is not able to release oxygen to the bodys tissues as well as other hemoglobin
molecules. People who have methemoglobinemia have very shocking symptoms. Patients lips are purple, their skin
turns blue, and their blood appears chocolate colored because it does not have enough oxygen. Usually this is the
only symptom that patients with the disorder have. However, if methemoglobin levels get extremely high, patients
will likely have other symptoms. The chart below shows the symptoms that occur as the percentage of
methemoglobin in the blood increases.
% of Methemoglobin in Blood:
<10%
10-20%
20-30%
30-50%
50-70%
>70%

Symptoms:
None
Skin Discoloration (blue skin)
Anxiety, Lightheadedness, Headache, Increased Heart Rate
Fatigue, Confusion, Dizziness, Rapid Breathing, Increased Heart Rate
Coma, Seizures, Irregular Heartbeat
Death

Case Study: Benjamin

Benjamin (Ben) Stacy was born in 1975 in a hospital in Kentucky. Doctors were shocked because Bens skin was so
blue that it was almost purple. They suspected that a blood disorder might be the cause of his symptoms. The
doctors at the hospital looked at Bens family history and ran a series of tests in order to correctly diagnose him.
These tests are described below.
1) The doctors took several pictures of Bens
skin as a baby and as a child. Luckily, Bens skin
returned to a normal color as time went on.
However, certain parts of his body such as his
lips and fingernails remained a blue color even
into adulthood. This was his only symptom.

Name:___________________________________________________ Date:____________ Hour:_________

2) The doctors did a blood test when Ben was first born. They determined that 14% of the hemoglobin in his
blood was methemoglobin.
3) When the doctors discussed Bens family history with his grandmother she mentioned the Blue People of
Troublesome Creek. She explained that Ben might be related to the Fugate family that lived on the banks of
Kentuckys Troublesome Creek for many generations. The founder of this family, Martin Fugate, settled in the
area in 1820. Martin married a woman named Sarah and together they had many children. Over several
generations, quite a few of the members of the Fugate family were born with blue skin like Bens. Below is a
picture of one branch of the Fugate family. Do you notice any similarities between this picture and Bens pictures
on the previous page?!!!

4) After finding many similarities between Bens case and the Fugate family, the doctors found a pedigree of the
family on Ancestry.com. Shaded people in the pedigree had blue skin, and non-shaded people did not. Shockingly,
Ben appears on the Fugate familys pedigree. Can you find him?

*** Things to Notice:

Neither of Bens parents have blue skin but he DOES!
There is a lot of inbreeding in this family. Members of the Fugate family often married each other.

Name:___________________________________________________ Date:____________ Hour:_________

Brainstorming

Directions: Using all of the evidence and information given to you on the first two pages of this assignment, work
with a partner to answer the questions below.
a) What blood disease is Ben suffering from? __________________________
b) Explain how you know this by looking at the pictures that the doctors took of Ben.
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
c) Explain how you know this by looking at the results from his blood test.
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
d) Why doesnt Ben have any symptoms besides blue skin? (Hint: Compare Bens blood test results with the
information from the chart on pg #1 of this assignment.)
________________________________________________________________________________
________________________________________________________________________________
e) Explain how you know that Ben is suffering from the same disease as the Fugate family. Use evidence from
the family photograph and the pedigree to support your answer.
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________
f) Is the disease dominant or recessive? Explain how you know this by looking at the pedigree. (Hint: Read
the Things to Notice statements under the pedigree.)
________________________________________________________________________________
________________________________________________________________________________
g) Why does this disease appear so often in the Fugate family? (Hint: Read the Things to Notice statements
under the pedigree.)
________________________________________________________________________________
________________________________________________________________________________
________________________________________________________________________________

Essay Response

Directions: On the back of this page, write your OWN response to the following prompt:
Create a hypothesis about why Ben is experiencing these symptoms. Use all evidence from the tests that his
doctors did and what you learned from the reading on the first page to help you explain your response. Make sure
to explain the following in your answer: 1) why Ben inherited the disease, and 2) how the disease caused Bens
symptoms. The easiest way to do this is to include each of the components that you and your partner
brainstormed about (a-g) in your response. Your essay should be 10-12 sentences in length.