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It's All Greek to Me: Genetics Edition

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Gianna Adams

on 25 February 2014

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Transcript of It's All Greek to Me: Genetics Edition

It's All Greek to Me: Genetics Edition
What are the symptoms of anemia?
Symptoms common to many types of anemia include the following:

-Easy fatigue and loss of energy
-Unusually rapid heart beat, particularly with exercise
-Shortness of breath and headache, particularly with exercise
-Difficulty concentrating
-Dizziness
-Pale skin
-Leg cramps
-Insomnia
-Gastrointestinal distress
-Lethargic
-Bloated

Why did the parents change Nikoleta's formula to a high iron formula?
Her parents wanted to see if it would alleviate her symptoms.
What are the risks/benefits of genetic testing?
Risks:
-Insurance possibly not cover you
-Worry about genetic makeup and possibility of disease
-Employment
-Genetic Discrimination
Are the lab results of the CBC normal? Which values are normal and which are not?
No, her blood cells are not shaped correctly and are not red. They are pink. Also, the Hb (hemoglobin), MCV (mean corpuscular volume), and WBC (white blood cell count) are not normal.
Benefits:
-Treatment
-Prevention
-Genetic Makeup known to you
What are the general features of this disease?
People who are homozygous recessive for anemia and repressively inherited the disorder.
If you were the genetic counselor, what would you suggest to Mr. and Mrs. Stamos concerning having more children? Why?
They should take caution when having another child, but it shouldn't stop them since the percentage is very low.
What is a genetic counselor?
They show you the likelihood of inheriting a disease.
www.youtube.com/watch?v=9UpwV1tdxcs
Normally red blood cells do not contain nuclei.
What is the structure of hemoglobin and how is oxygen bound to it?
Hemoglobin carries oxygen and is a molecule found in the blood.
Why was an analysis of Mr. and Mrs. Stamos' blood ordered?
Since their daughter had it, they wanted to see if if was genetic.
Synopsis
What is Erythroblastic Anemia?
Anemia characterized by the presence of large numbers of nucleated red blood cells (normoblasts and erythroblasts) in the peripheral blood.
Mr. and Mrs. Stamos brought their child Nikoleta to Dr. Stephens. Nikoleta's parents are very concerned and tell the doctor that the babby has been acting strangley. Nikoleta's father suspects she is anemic. Dr. Stephens orders a Complete Blood Count panel. Dr. Stephens refers Nikoleta to a hemotologist. These are the results.








The hemotologist reports he observed severe hypochromia and microcytosis (lightly colored and small cells), fragmented, and nucleated RBC's. He gets a blood sample from both parents because sometimes anemia can have a genetic base and finds that both parents have mild hypochromia and macrocytic anemia.
Mother - Aa
Father - Aa
Nikoleta - aa

(Anemia is a recessive disease.)
Do red blood cells normally have nuclei?
Full transcript