ATI Hematologic System Related

Review ATI Hematologic System related questions and content

A newborn infant develops jaundice on day of life 2. Labs are drawn, and she has a hemoglobin of 7.4 g/dL with a reticulocyte count of 8%. Upon peripheral blood smear review, she is found to have bizarre red cell forms with significant polkilocytosis. Although her parents have normal blood counts, on review of their peripheral blood smears, they both have a moderate number of ovalocytes. Which of the following is the most likely cause of the infant's red cell findings?

  • A. She has an autosomal dominant ankyrin mutation from one of her parents causing hereditary spherocytosis.
  • B. She has inherited band 3 variants from each parent and will likely need a splenectomy after she turns 5 years old.
  • C. She has inherited an alpha-spectrin mutation from both of her parents and may experience an improvement in her anemia over time.
  • D. She has inherited a PKLR variant from each parent, and enzyme testing will be consistent with her diagnosis of pyruvate kinase deficiency.
Correct Answer: C

Rationale: The correct answer is C because the infant likely has hereditary elliptocytosis, an autosomal dominant disorder caused by mutations in the alpha-spectrin gene. Ovalocytes and polkilocytosis are characteristic of this condition. Since both parents have ovalocytes, it is likely that the infant inherited mutations from each parent, resulting in a more severe presentation. Anemia in hereditary elliptocytosis can improve over time due to compensatory mechanisms. Choices A, B, and D are incorrect as they describe different genetic disorders (hereditary spherocytosis, hereditary stomatocytosis, and pyruvate kinase deficiency, respectively) and do not match the clinical and family history provided.