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Sickle-Cell Disease

What is it?

Sickle-Cell Disease is a genetic disorder that affects the blood. People produce an abnormal form of hemoglobin. Sickle-shaped red blood cells cannot carry as much oxygen as normal shaped cells.

 

Describe the Genetics.

You would inherit sickle-cell disease from your parents, who may be carriers with the sickle cell trait or parents with the sickle cell disease. In order to inherit the sickle cell hemoglobin, you are born with it and if you inherit one sickle gene, you have the sickle cell trait (meaning that you will produce both normal hemoglobin and abnormal hemoglobin. You will usually not have symptoms of the disease). If you inherit two sickle cell genes, you have the sickle cell disease. The allele for the sickle cell trait is most common in people of African ancestry and the allele for the sickle cell trait is codominant with the normal allele.

 

What are Some Treatments?

There really are no treatments for sickle-cell disease. People with sickle cell disease are given drugs to relieve their painful symptoms and to prevent blockages in blood vessels.

 

What is a Prevention?

Many tests for birth defects include using a blood specimen taken before the baby leaves the hospital. The baby’s heel is pricked to obtain a few drops of blood for analysis. Early diagnosis and treatment can make the difference between lifelong disabilities and a healthy development.

 

If I were a genetic counselor, what would I say?

If the siblings of the dad has the disease and the mother is a carrier and the father has the trait (not the disease), then the children would be different for each probability.

 

 

 

 

 

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