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A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5′-Nucleotidase Deficiency

A Case Report

Köker, Sultan A. MD*; Oymak, Yeşim MD*; Bianchi, Paola MD; Fermo, Elisa MD; Karapinar, Tuba H. MD*; Gözmen, Salih MD*; Ay, Yilmaz MD*; Vergin, Raziye C. MD*

Journal of Pediatric Hematology/Oncology: November 2019 - Volume 41 - Issue 8 - p e484–e486
doi: 10.1097/MPH.0000000000001482
Online Articles: Original Articles

Pyrimidine-5-nucleotidase (P5′N-1) deficiency is a rare nonspherocytic hemolytic anemia due to pyrimidine nucleotide deposition within erythrocytes. This rare erythrocyte disorder shows autosomal recessive inheritance with mutation of the pyrimidine-5′-nucleotidase gene, which is localized on 7p15-p14. Consanguinity of parents increases the probability of disease with novel mutations. Here, we report a 12-year-old boy with a delayed diagnosis of P5′N deficiency whose parents were consanguineous. He had a hemoglobin level of 7.5 g/dL, mean corpuscular volume of 93 fL, 7% reticulocyte, and lactate dehydrogenase of 678 IU/L. A peripheral blood smear showed polychromasia, marked anisopoikilocytosis with schistocytes, elliptocytes, stomatocytes, spherocytes, dacryocyte, and basophilic stippling in red blood. Decreased purine/pyrimidine ratio was 1.07 (normal range=1.4 to 2.98). Molecular analysis with direct DNA sequencing of the NT5C3 gene, codifying for P5′N-1, revealed the presence of a novel homozygous mutation, c393-394delTA, in the gene coding P5′N enzyme in the patient. To our knowledge, this is a newly defined mutation in P5′N deficiency.

*Division of Pediatric Hematology, Dr. Behçet Uz Children’s Hospital, Izmir, Turkey

IRCCS foundation Ca ‘Granda Ospedale Maggiore Policlinico of Milan, UOC Hematology, UOS Fisiopatologia delle Anemie, Milan, Italy

The authors declare no conflict of interest.

Reprints: Sultan A. Koker, MD, Department of Pediatric, Hematology and Oncology, Dr. Behcet Uz Children’s Hospital, 35350 Izmir, Turkey (e-mail:

Received December 15, 2018

Accepted March 12, 2019

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