How is sickle cell disease most commonly diagnosed?

Sickle cell disease is most commonly diagnosed through electrophoresis, a laboratory technique that separates molecules based on their size and charge. In the case of sickle cell disease, particularly hemoglobin S, the variant hemoglobin produced in patients, can be identified and distinguished from normal hemoglobin using this method. The test allows for the assessment of different types of hemoglobin in the blood, making it a reliable and efficient diagnostic tool for confirming sickle cell disease.

Electrophoresis can detect the presence of abnormal hemoglobins such as HbS, HbC, and HbF, which are significant to diagnosing sickle cell disease and its variants. This technique is preferred over other methods because it not only confirms the presence of the sickle-shaped hemoglobin but can also provide information about the types of hemoglobin present in the patient, aiding in comprehensive diagnosis and management.

While other diagnostic methods, like genetic testing, can also confirm the diagnosis of sickle cell disease, they are typically more specific and might not be used as the initial screening tool. Bone marrow biopsy and complete blood count provide some information about hematological abnormalities but do not definitively diagnose the specific type of hemoglobinopathy.