Glorinela villalba 4th Period
How is this disease inherited?
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."
what happens to the body?
Symptoms of sickle cell disease ?
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 .