Question

il cricket 1:38 AM 0 * 47% History of Present Problem: Anthony Perkins is a 15-year-old African American male who was at a medically monitored summer camp and participated in several sports activities when the temperature was greater than 90 degrees. He began having pain in his knees and was evaluated by the camp nurse. After evaluation, he was transported to his primary care provider where he was then transferred as a direct admit to the pediatric floor of the community hospital. He weighs 154 lbs or 70 kg. Personal/Social History: Anthony was diagnosed with sickle cell anemia at birth during a routine newborn screening. He was a term newborn with normal childhood illnesses. He is current with his pneumococcal and influenza vaccines. Anthony has had multiple hospitalizations for sickle cell crises and transfusions. Admission assessment: GENERAL Uneasy in bed, changing position frequently, cooperative and JAPPEARANCE: responds to questions appropriately. RESP: Breath sounds clear with equal aeration bilaterally, increased respiratory effort, mild nasal flaring noted; no tracheal tugging, no retractions. CARDIAC: Pink, warm and dry, no edema, heart sounds regular with no abnorm beats, no murmur noted, pulses strong, equal with palpation at radial pedal post-tibial landmarks, denies chest pain. NEURO Alert and oriented to person, place, time, and situation (x4) GI: Abdomen soft nontender, bowel sounds audible per auscultation in a four quadrants. GU: Voiding without difficulty, urine clear dark amber in color, no priaprism present. SKIN: Skin integrity intact. MUSKULOSKELETAL: Knees swollen bilaterally, erythemic, warm to touch, decreased RON of knees, pain reported with movement. 1. Discuss the underlying pathogenesis of sickle cell anemia. 2. Discuss the genetics of sickle cell disease. 3. If Anthony has a child with someone who does not have sickle 11 1 11 ..: : L- 1: 1:11. :11 1

Answer 1

1. The sicke cell anemia is an inherited form of anemia that results in an alteration of the shape of red blood cells. Usually, the hemoglobin in the red blood cells carry oxygen from the lungs to a different part of the body cells. If the red blood cells are not healthy enough, then the hemoglobin becomes stiff that results in disc-shaped of red blood cells. These cells have lost their lives in 10 to 20 days and loss of RBCs result in anemia.

2. Sick cell disease is an inherited disease of autosomal recessive pattern which happens due to mutation of Beta -globin gene. These results in a change of physicochemical properties of hemoglobin that affects the structure of red blood cells. The individual receives one copy of the mutated gene from both the mother and the father.