A fatigued 15-year-old Italian girl visits her general practitioner for a yearly physical. Her RBC count is elevated with a low H & H. The PB smear shows moderate microcytosis and hypochromia. Moderate poikilocytosis with moderate target cells is also noted. Hemoglobin electrophoresis is performed. The results indicate elevated levels of F and A2. Based on these findings, what is the most probable thalassemia genotype of this patient?

Question

Quizplus · Accepted Answer

The elevated levels of F (fetal hemoglobin) and A2 indicate beta-thalassemia trait. The moderate microcytosis and hypochromia with moderate poikilocytosis and target cells are consistent with beta-thalassemia trait as well. The genotype for beta-thalassemia trait is usually written as either β/β or β/β+. Choice C indicates the latter genotype with one beta-globin gene being normal and the other having a raised A2 level. The other answer choices are not consistent with the presented findings.

A Fatigued 15-Year-Old Italian Girl Visits Her General Practitioner for a Yearly