Sickle Cell Anemia Dylan Ciolek, Dan Geitz, Mark Grigoletti, Maynard Tan

Definition Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

Definition (Continued) This irregular shape prevents the RBCs from performing its functions and hinders other systems from completing theirs

Body Systems ● Respiratory ● Circulatory ● Immune System

Respiratory System Red blood cells are sickle-shaped as opposed to donut-shaped Cannot carry as much oxygen as normal RBC’s due to lower hemoglobin binding rates Ineffective cellular respiration can cause fatigue, slowed growth and metabolism Acute Chest Syndrome – Sickle cells clump together and cause pulmonary blockages Fever, pneumonia, and lung damage can occur

Circulatory System ● Restricted blood flow. ● Low hemoglobin binding rates, leading to hypoxia and hypoxemia throughout the body.  Physical activities become labor intensive. ● Episodes of pain called crises, occur when the sickle cells build up in a blood vessel and block flow.  These episodes can last from hours to weeks. ● Capillaries in the eyes can become occluded.  Blurry vision  Progressively results in blindness ● Obstructive stroke can occur if sickle cells block circulation into an area of the brain.

Immune System ● Sickle cells can either reduce or block blood flow to the necessary area. ● Sickle cells are also not capable of carrying adequate levels of oxygen.  Slows healing time.  increases the risk for infection. ● Over time sickle cells can also clog the spleen which lowers the level of white blood cells in the body.

Risk factors 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. The gene is more common in families that come from Africa, India, Mediterranean countries, Saudi Arabia, the Caribbean islands, and South and Central America. In the United States, it most commonly affects blacks.

Manifestations Hand-foot syndrome – Sickle cells block small blood vessels in hands/feet, causing pain, swelling, and fever. Similar to Edema in appearance

Manifestations (Continued) Stunted growth – Sickle cell anemia limits the amount of RBCs in the bloodstream, stunting growth and delaying puberty Retinal Complications – As with hand-foot syndrome, the abnormal sickle cells block or burst the small blood vessels in the retina, which may lead to blindness

Lab/Diagnostic Testing Lab/Diagnostic Testing Sickle Cell test – Uses high-performance liquid chromatography(HPLC), to confirm which form of hemoglobin is present(Abnormal=Hemoglobin S, normal = Hemoglobin A)Hemoglobin F will be almost exclusively found in newborns with the disease. Genetic Testing – Testing of the mother and father for sickle cell gene, in addition to the child itself. Both the mother and father have to pass down the gene for full-blown Sickle Cell Disease. RBC Count – because sickle cells die faster than normal red blood cells, anemia(low RBC) often accompanies sickle cell disease.

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