Sickle cell disease is a genetic disorder caused by the presence of an abnormal form of the hemoglobin molecule. It is diagnosed through a variety of tests.
The first step in diagnosing sickle cell disease is a blood test. This is done to measure the levels of hemoglobin in the blood. If the hemoglobin levels are lower than normal, it could indicate the presence of sickle cell disease. In addition, the blood test can also detect the presence of abnormal hemoglobin molecules, which are indicative of sickle cell disease.
The next step in diagnosing sickle cell disease is a bone marrow biopsy. This is done to take a sample of bone marrow, which is then analyzed for the presence of abnormal hemoglobin molecules. If the abnormal molecules are present, it confirms the diagnosis of sickle cell disease.
Another test used to diagnose sickle cell disease is a genetic test. This test looks for changes in specific genes that are linked to sickle cell disease. If the changes are present, it confirms the diagnosis of sickle cell disease.
Finally, a physical examination is done to look for signs and symptoms of sickle cell disease. These include anemia, jaundice, and pain in the bones and joints.
Overall, diagnosing sickle cell disease involves a combination of tests. These tests help to confirm the diagnosis and provide important information about the severity of the disease.