Sickle+Cell+Disease

Sick genes Activity: Sickle cell disease It’s an inherited disease that consists on a group of disorders that affects the molecule in red blood cells that carry oxygen to cells throughout the body called hemoglobin. After they distribute the oxygen some might form abnormal shapes.

__Symptoms: __ the more common symptoms of this disease is attacks of abdominal pain, bone pain, breathlessness, fatigue, strong fevers, late growth or puberty, paleness, rapid heart rate, ulcers in the lower part of the legs and the eyes and the skin become yellow. These symptoms begin mostly during childhood and may vary from person to person, but most of them would have low number of red blood cells, repeated infections, and crisis of pain.



__Type of Genetic Mutation: __ This disease is caused when a mutation in the HBB gene sequence is present in the chromosome 11. Hemoglobin is made up of four subunits proteins, two of alpha-globin and two of bet-globin. This mutation replaces one or both of the beta-globin with other abnormal type of hemoglobin called hemoglobin S.

__Type of Genetic Relationship/Inheritance: __Dominant vs Recessive. This disease is inherited to the next generation depending on the alleles of the progenitors in this trait. The only way that sickle cell disease can occur is if both of the progenitors are carriers of the sickle cell.

__Causes: __ The mutation in the HBB gene produces sickle hemoglobin, when this hemoglobin released the oxygen it sticks together, forming long rods. This causes that the red blood cells structure change to an abnormal sickle shape. These sickle cells tend to block the blood vessels, blocking the blood flow of the organs. This blocked blood flow causes the pain, infections, and damage of some organs.

__Epidemiology: __ This mutation was originated in Africa and India; making that the more likely people that present this disease are African Americans. In gender terms males and females had the same possibility of having this mutation since it’s not an x-linked disease. In age terms the young population are most likely to have it; the average age of having SCD (sickle cell disease) is 23 years old and after the diagnosis, the death average is 27 years old.

__Diagnosis: __ The diagnosis of this disease can be done through blood testing, using a method called hemoglobin electrophoresis. Through this method a small sample of blood of the patient is taken and sent to a laboratory where the percentage of normal and abnormal hemoglobin is measured. The other steps of this test are the Sickledex test and the Amniocentesis. In the Sickledex test a small sample of blood is taken to a laboratory where the diagnose depending on the reaction of the blood at the moment they add a deoxygenated agent, and finally in the Amniocentesis test they used ultrasound to remove a small amount of amniotic fluid that is taken to the laboratory for testing.

__Prognosis: __<span style="font-family: 'Century Gothic',sans-serif; font-size: 12pt;"> Almost all the people with SCD end up affected to some point where organ system is involve. There are three factors that have been identified as direct consequences of this disease. These effects were the hand-foot syndrome in infants younger than one year which can occur with several types of chemotherapy or any type of therapy used to treat cancer, Hemoglobin level of less than 7 g/dl, and leukocytosis, increased in the number of white blood cells in blood, in the absence of infection. Mortality in SCD is higher in early childhood years than in adulthood. The main causes of death are acute chest syndrome, pulmonary embolism, and infections.

__<span style="font-family: 'Century Gothic',sans-serif; font-size: 12pt;">Treatments: __<span style="font-family: 'Century Gothic',sans-serif; font-size: 12pt;"> The main purpose of the treatments for SCD is to control the number of crises and symptoms. This treatment is applied all the time during the disease even when the patient doesn’t have the crisis. The treatment includes blood transfusions, and pain medicines as antibiotics to prevent infections. If there are any complications of SCD the treatment would include a surgery solution for it; such as kidney transplants, gallbladder removal, hip replacement, and surgeries for eyes or any other organ involve.

__<span style="font-family: 'Century Gothic',sans-serif; font-size: 12pt;">Preventions: __
 * <span style="font-family: 'Century Gothic',sans-serif; font-size: 12pt;">If you have SCD you can prevent the change of the red blood cells by getting enough fluids, oxygen, and quick treatments for infections.
 * <span style="font-family: 'Century Gothic',sans-serif; font-size: 12pt;">To prevent the crisis of SCD you need to avoid all the activities that reduce your oxygen level, drink a lot of fluids, and avoid too much sun exposure.