Clinical Laboratory Hematology 3rd Edition by Shirlyn McKenzie, Lynne Williams

تمرين 16

Shane, a 16-year-old African American male with a previously diagnosed hemoglobinopathy, was admitted to the hospital complaining of severe pain in his knees and back. Two of his four siblings have the same disorder. He has been admitted to the hospital on numerous occasions throughout his life for complications of his disease. Physical examination reveals a thin male in acute distress, complaining of severe pain. A head, eyes, ears, nose, and throat (HEENT) exam is positive for corkscrew vessels of the schlerae, schleral icterus, and small, ill- defined, mobile (shotty) cervical lymph nodes. Abdominal exam revealed no splenomegaly, hepatomegaly, tenderness, or masses. Vital signs included temperature 37.8°C, blood pressure 95/70, and pulse 82. Blood was drawn for laboratory tests, and a chest radiograph and MRI of the head were ordered.
Consider whether the patient's current condition is likely to be related to his previous diagnosis and what the laboratory's role is at this time.
Results of hemoglobin electrophoresis were 90% HbS, 9% HbF, and 1% HbA 2.
Is Shane heterozygous or homozygous for the disorder?