A 22-year-old woman from a large Italian family is screened for a familial blood disorder. The results of laboratory studies include a hemoglobin of 9.5 g/dL and a smear displaying mild microcytosis, hypochromia, and a few target cells. Haemoglobin electrophoresis shows a mild increase in haemoglobin A2 (7.5%). What is the appropriate diagnosis?
Correct Answer: Heterozygous b-thalassemia
Description: - Heterozygous b-thalassemia is associated with Microcytosis & hypochromia; degree of microcytosis is dispropoionate to severity of anemia, which is generally mild. Target cells, basophilic stippling & mild increase in hemoglobin A2 are present Most patients are asymptomatic. - Homozygous b-thalassemia is a more serious disease associated with high amounts of HbF
Category:
Pathology
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