From the Research
The most likely test to establish this patient's diagnosis is hemoglobin electrophoresis (option D). This 18-month-old boy from Uganda presents with fatigue, tachycardia, hypotension, scleral icterus, pallor, a systolic ejection murmur, and massive splenomegaly. These findings strongly suggest sickle cell disease or another hemoglobinopathy. Hemoglobin electrophoresis would identify abnormal hemoglobin variants such as hemoglobin S (sickle cell disease) or other hemoglobinopathies common in people of African descent, as supported by studies such as 1 and 2. The patient is likely experiencing an acute splenic sequestration crisis, a life-threatening complication of sickle cell disease where large amounts of blood become trapped in the spleen, causing rapid enlargement, anemia, and hypovolemic shock. The geographic origin (Uganda), age of presentation, and constellation of findings including splenomegaly, pallor, jaundice, and cardiovascular compromise make hemoglobinopathy the most likely diagnosis, which would be confirmed by hemoglobin electrophoresis.
Key points to consider in this diagnosis include:
- The patient's symptoms and physical examination findings, such as fatigue, tachycardia, and splenomegaly, which are consistent with a hemoglobinopathy
- The patient's geographic origin, Uganda, where sickle cell disease is common
- The importance of hemoglobin electrophoresis in diagnosing hemoglobinopathies, as highlighted in studies such as 3 and 4
- The potential for acute splenic sequestration crisis, a life-threatening complication of sickle cell disease, which requires prompt diagnosis and treatment
Overall, hemoglobin electrophoresis (option D) is the most appropriate test to establish this patient's diagnosis, given the clinical presentation and the importance of identifying abnormal hemoglobin variants in patients with suspected hemoglobinopathies, as supported by the most recent and highest quality studies, including 1 and 2.