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Their is a defect on chromosome 11






How do these systems function in the body normally? What are the roles in maintaining homeostasis(balance)? It affects the red blood cells, which uses the protein hemoglobin to transport oxygen from the lungs to the rest of the body. Normally, the red blood cells are flexible and round so they can freely travel through the blood vessels.

What specific organs make up the systems that are affected by sickle cell and what roles does each of them play? Blood vessels- irregular shapes get stuck , unable to transport oxygen. The spleen, kidneys, liver, lungs, heart, and other organs get damaged when oxygen is not transport. Patients do not live as long as those who have healthy red blood cells.

How does sickle cell disease affect organ function and disrupt the homeostasis? Oxygen does not get through damaging and ruining the bodies organs. It is very important to have oxygen passing through.

What is the inheritance pattern?It is inherited in an autosomal recessive pattern.

What specific chromosome is affected? Chromosome 11

What is the specific name  of the defective gene? Sickle cell is an autosomal recessive disorder caused by defects in the HBB gene that codes for the protein hemoglobin.

What specific protein is affected? Hemoglobin

How are the people with sickle cell disorder affected? What can or can’t their bodies do? It affects the red blood cells, which uses a protein called hemoglobin to transport oxygen from the lungs to the rest of the body. They have a mutation and the molecules don’t form properly, causing red blood cells to have a concave shape and be rigid. These shapes can get stuck in the blood vessels and are unable to transport oxygen.

What are the symptoms of the disorder and at what age do they begin to show? It prevents oxygen from reaching body organs, causing a lot of damage. Others include shortness of breath, dizziness, headaches, coldness in hands and feet, etc. It can be present at birth, but the signs will not show until 4 months of age.

What is the life expectancy of someone with sickle cell anemia? People have died from the ages of 20 to 40 due to organ failure. Now with better understanding and technology, patients can live through their 50’s and beyond.

What is the frequency of condition or how common is it? It affects millions of people throughout the world particularly  common who’s ancestors come from spanish speaking regions. Cuba, South America, Central America, and Mediterranean countries. Approximately 2 million Americans, 1 in 12 African Americans, and 1 in16 Hispanics carry the sickle cell disease trait.

Are some populations or races more prone to having this disorder? Yes, it most commonly affects African-Americans. About 1 out of every 500 African-American babies are born with sickle cell anemia in the U.S.

Can it be diagnosed without genetic screening? No, because they may see the symptoms, but not know exactly if it is sickle cell anemia.

Is there currently available treatment or therapy for this? What are the costs and or inconveniences involved in the treatment? Young children and babies take a dose daily of penicillin to prevent deadly infections. Doctors advise to drink a lot of water, get rest,  and avoid a lot of physical activity.

What is the outcome without genetic screening and treatment? If patients with this disease do not get treated, it will lead to organ failure and other complications, causing death.

When and how are the individuals screened for this genetic disorder? The most common treatments include complete blood count (CBC), hemoglobin electrophoresis, and the sickle cell test.

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