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.
https://onlinelibrary.wiley.com/doi/10.1002/ajh.23556. Copyright © Wiley
Periodicals, LLC. Reproduced with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email:
[email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (
https://onlinelibrary.wiley.com/).
