This blood film is from a patient with a previously undiagnosed congenital hemolytic anemia, including hepatosplenomegaly and a history of cholecystectomy for pigment gallstones. At the age of 21 she had blunt trauma to the abdomen and required traumatic splenectomy. Her Hb was 8.1 g/dL, reticulocyte count 13.7%, and bilirubin and LDH were elevated. Review of the blood smear showed prominent basophilic stippling (arrows). RBC pyrimidine 5' nucleotidase activity was decreased at 1.0 nmol/h/mg Hb (normal range, 9-20); both parents had reduced activity (mother 4.0, father 6.0 nmol/h/mg Hb).
From: Al-Jafar HA, Layton DM, Robertson L, et al. Diagnosis of
pyrimidine 5'-nucleotidase deficiency suspected from a blood film. Am J Hematol
2013; 88:1089.
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