Sickle-Cell Disease

Glorinela villalba 4th Period

What is the Sickle-cell Disease?

The Sickle-Cell disease is a blood disorder that affects themogloblin the protein found in red blood cells (RBCs) that helps carry out oxygen through the body. This disease makes the blood cells which are usually a disc shape look more like a cresent shape.

How is this disease inherited?

"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition." Also it is most likely that this affects people of the African ancestery but also occurs in other ethnical groups like people who are meditarian and middle eastern descent. The only way a child will not inheirit the disease unless both parents pass down a defective copy of the gene . This disease affects aproxamitly 80,000 americans while 1 out of 12 africans and 1 out of 100 hispanics carry the trait of the disease.(see picture above to clarify.)

The cause of this disease

Mutations in the HBB gene cause sickle cell disease.

"Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene. One particular HBB gene mutation produces an abnormal version of beta-globin known as hemoglobin S (HbS). Other mutations in the HBB gene lead to additional abnormal versions of beta-globin such as hemoglobin C (HbC) and hemoglobin E (HbE). Mutations in the HBB gene cause sickle cell disease. In people with sickle cell disease, at least one of the beta-globin subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia, which is a common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin."

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what happens to the body?

This disease causes the red blood cells to be cresent shaped instead of its normal shape like shown above in the picture. Normally, your red blood cells are flexible and round, moving easily through your blood vessels but In sickle cell anemia, the red blood cells become rigid and sticky and are shaped like crescent moons. These different shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

Symptoms of sickle cell disease ?

• Anemia

This is when sickle cell are fragile which means they break apart easily and die. When this happens you are left with chronically shortage of blood cells. Anemia cause fatigue because your body can't get the oxygen it needs to feel energized.

• Episode of pain

The pain develops when sickle cell shaped red blood cells block blood flow through tinny blood vessels to yor chest , abdominal , and joints ( bones) .

• Frequent infections

The reason for this is because the sickle cell can damage your spleen which is an organ that fights infections.

• Delayed growth

The red blood cells provide your body the oxygen and nutrients you need for growth. So a shortage of healthy red blood cells can slow growth in infants , children , and delay puberty in teenagers .

• vision problems

This happens when tinny blood vessels that supply your eyes become plugged with sickle cells. This can damage the Retina which is the portion of the eye hat processes visual images.

• Hand-foot syndrome

This swelling is caused by suckled shaped red blood cells locki blood flow out of thier hands and feet. This may be the first sign in sickle cell disease in babies .

How is this disease diagnosed?

Well the only way you can get the sickle cell disease diagnosed is when you ask your doctor for a blood test called Hemoglobin Electrophoresis .

How is this disease treated ?

This disease can be treated in many ways . Although scientist are researching new for sickle cell Anemia like a gene therapy . For now this disease can be treated with antibiotics (penicillin ) this is only for children 2 months of age to 5 years old. This helps prevent infections. For anyone pain relieving medication can be advised by your doctor. (Over the counter medicine ) . Another treatment is the Hydroxyurea for those who take it daily it has reduced the frequency of painful crisis and may reduce the need for blood transfusion . Also blood transfusion is a treatment it. Helps restore blood cells and in creases the number of normal red blood cells in circulation which helps to relieve Anemia . Lastly supplement oxygen which is given for those who have trouble breathing . this helps add blood and also help you breath easily .

What I learned?

I've learned many things while researching this disease for example I had no idea that their was a disease that turned regular disc shaped blood cells into crescent shaped blood cells that end up blocking the small blood vessels and making people have trouble breathing.