Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2025 - Free CPHON Practice Questions and Study Guide

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How is Sickle Cell Disease diagnosed and its subtype determined?

Complete blood count

Hemoglobin electrophoresis

Sickle Cell Disease (SCD) is primarily diagnosed through hemoglobin electrophoresis, as it specifically analyzes the different types of hemoglobin in the blood. This laboratory technique separates various hemoglobin molecules by their electric charge and size, allowing for the identification of abnormal hemoglobins such as hemoglobin S, which is characteristic of sickle cell disease, as well as other variants like hemoglobin C and F. Determining the subtype of sickle cell disease, which can significantly influence the patient's clinical management and prognosis, is effectively accomplished via this method.

While a complete blood count can indicate the presence of anemia often associated with SCD, it does not provide specific information about hemoglobin types. Bone marrow biopsy is generally not utilized for diagnosing SCD, as it is more relevant for evaluating hematological malignancies or other bone marrow disorders. Genetic testing can identify mutations in the hemoglobin gene but is typically not used as a first-line diagnostic tool for SCD in clinical practice.

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Bone marrow biopsy

Genetic testing

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