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Real World - Sickle Cell Anemia
Sickle Cell Anemia
Patients with sickle cell disease have a mutation in a gene that codes for part of the hemoglobin protein. As a result, hemoglobin does not form properly, causing red blood cells to be oddly shaped. These irregularly shaped cells get stuck in the blood vessels and are unable to transport oxygen properly, causing pain, frequent infections, and damage to the organs. Patients with sickle cell disease only survive to be 20 to 30 years old. About 1 in 500 babies born in America has the disease.
The normal hemoglobin nucleic acid sequence looks like:
Use the genetic code below to decode the top strand of the DNA.
The mutant form of the hemoglobin gene is shown below with the mutation highlighted:
Sickle cell disease is a recessive genetic disease. The normal hemoglobin allele can be represented by “H” and the mutant allele can be represented by “h”.
Jack and Jill were married one year ago and are thinking of starting a family. Neither has sickle cell disease. However, Jack’s younger sister is very sick with sickle cell disease. This has made Jack and Jill worried that a baby they have together may be born with sickle cell disease. Jack and Jill decide to get genetic testing to see whether either of them has a mutant hemoglobin gene. The results come back saying that both Jack and Jill are both Hh.
Sickle cell disease is most common in people of African, Indian or Middle Eastern descent. Africa, India and the Middle East all have a big problem with another disease - malaria. If you get malaria, you become extremely sick with a high fever, vomiting, convulsions and possible organ failure. Infants and children are particularly vulnerable. Almost 1 million children die from malaria each year.
Interestingly, people that only have one copy of the mutant hemoglobin gene are more resistant to malaria. If infected, they become only slightly sick (with symptoms more like the common cold) and children that are heterozygous rarely die from malaria!