A 15 year-old African American boy presents to your office for the follow-up of his recently diagnosed sickle cell disease. He asks you that he is curious to know about the formation of Hemoglobin S in the body. How would you describe the gene defect that leads to the formation of Hemoglobin S? Change in sixth amino acid of the β chain from glutamate to valine (β6 glu → val) Change in 6th amino acid of β chain from glutamate to lysine (β6 glu → lys) Change in 26th amino acid of β chain from glutamate to lysine (β26 glu → lys) Change in 121st amino acid of β chain from glutamate to glutamine (β121 glu → gln) Change in 68th amino acid of α chain from asparagine to lysine (α68 asn → lys)

A 16 year-old African American boy presents to the emergency department complaining of severe pain in both legs and back. He climbed Mount Davis, the highest point in Pennsylvania (3213 ft) over the weekend. He reports that he enjoyed climbing the mount. As he was descending, he developed pain in his chest, legs and back. The pain has been present for 1 day and is steadily increasing in severity. He took ‘tons of tylenol and ibuprofen, and it ain’t cut it’. He denies any recent trauma. Since his pain started he feels like he should have listened to his parents, who warned him against the mountain trip because of a preexisting condition he has. He reports that he has suffered from severe bouts of chest pain, back pain and leg pain in the past when he engaged in multiple sporting events during the summer holidays. One of his cousins suffers from a similar disorder. On physical examination, he is afebrile and in some distress due to pain. He has nonspecific bilateral anterior thigh pain with no abnormalities appreciated. The remainder of his examination is normal. Laboratory tests reveal his hemoglobin level as 7.1 g/dL. Peripheral smear shows crescent shaped red blood cells. Patient was treated for his condition. As you prepare him for discharge, he informs you that next month, he is planning to travel to Tennessee to climb the Clingmans Dome in Great Smoky Mountains National Park. It is 6,643 feet in elevation. What would be the best advice you can give to this patient as he prepares for his next mountain climbing?

A 15 year-old African American boy presents to the emergency department complaining of severe pain in both legs and back. He climbed Mount Davis, the highest point in Pennsylvania (3213 ft) over the weekend. He reports that he enjoyed climbing the mount. As he was descending, he developed pain in his chest, legs and back. The pain has been present for 1 day and is steadily increasing in severity. He took ‘tons of tylenol and ibuprofen, and it ain’t cut it’. He denies any recent trauma. Since his pain started he feels like he should have listened to his parents, who warned him against the mountain trip because of a preexisting condition he has. He reports that he has suffered from severe bouts of chest pain, back pain and leg pain in the past when he engaged in multiple sporting events during the summer holidays. One of his cousins suffers from a similar disorder. On physical examination, he is afebrile and in some distress due to pain. He has nonspecific bilateral anterior thigh pain with no abnormalities appreciated. The remainder of his examination is normal. Laboratory tests reveal his hemoglobin level as 7.1 g/dL. Peripheral smear shows crescent shaped red blood cells. Of the following, which best describes the inheritance of this disorder?

A 6 year-old girl is brought to your office by her dad for the evaluation of weakness and fatigue. Dad reports that some of their family relatives have a genetic blood disorder. Physical examination is significant for scleral icterus and splenomegaly. Laboratory test results demonstrate hemolytic anemia, increased mean corpuscular hemoglobin concentration, reticulocytosis, normal mean corpuscular volume, and an increased red blood cell osmotic fragility. You suspect hereditary spherocytosis based on the history, physical examination and laboratory test reports. Which of the following is the definitive treatment for this disorder when it is severe?

A 7 year-old girl is brought to your office by her dad for the evaluation of weakness and fatigue. Dad reports that some of their family relatives have a genetic blood disorder. Physical examination is significant for scleral icterus and splenomegaly. Laboratory test results demonstrate hemolytic anemia, increased mean corpuscular hemoglobin concentration, reticulocytosis, normal mean corpuscular volume, and an increased red blood cell osmotic fragility. You suspect hereditary spherocytosis based on the history, physical examination and laboratory test reports. Which of the following best explains the pathology of this disease?

An 8 year-old girl is brought to your office by her dad for the evaluation of weakness and fatigue. Dad reports that some of their family relatives have a genetic blood disorder. Physical examination is significant for scleral icterus and splenomegaly. Laboratory test results demonstrate hemolytic anemia, increased mean corpuscular hemoglobin concentration, reticulocytosis, normal mean corpuscular volume, and an increased red blood cell osmotic fragility. You thought of a hemolytic disorder based on the history, physical examination and laboratory test reports. Which of the following is an inherited cause of hemolytic anemia?