A New Homozygous Mutation (c.693+1G>A Variant) in the NT5C3A Gene Associated with Pyrimidine-5′-Nucleotidase Deficiency: A Case Report

Patır DC1, Güneş A1*, Durmaz B2, Karaca E2 and Soyer N1

1Department of Hematology, Ege University Faculty of Medicine, Turkey
2Department of Genetics, Ege University Faculty of Medicine, Turkey

^*Correspondance to: Ajda Güneş 

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Abstract:

Pyrimidine 5'-Nucleotidase (P5N) deficiency is a rare erythrocyte enzymopathy and third most common cause of hereditary non-spherocytic hemolytic anemia. Inheritance is autosomal recessive, and it usually causes mild to moderate hemolytic anemia, jaundice and splenomegaly. Here we report a case who diagnosed P5N deficiency at 64-year-old with a newly identified mutation. The patient had anemia, jaundice, and splenomegaly since childhood. Splenectomy was performed 20 years ago. She was diagnosed with systemic lupus erythematosus 7 years ago with autoimmune hemolytic anemia and thrombocytopenia. She had treated with steroid, intravenous immunoglobulin and rituximab. She admitted to our clinic with anemia and jaundice. She had hemoglobin level of 8.8 g/ dL, mean corpuscular volume of 128 fL, 4.3% reticulocyte, and lactate dehydrogenase of 393 IU/L. Peripheral blood smear showed macrocytosis, polychromasia, and basophilic punctuation. Next Generation Gene Sequencing (NGS) analysis was performed after excluding other causes of anemia. A homozygous c.693+1G>A mutation was detected in the NT5C3A gene. To our knowledge, this is a newly identified mutation in P5N deficiency.

Keywords:

Hemolytic anemia; Pyrimidine 5’-nucleotidase deficiency; NT5C3A gene

Cite the Article:

Patır DC, Güneş A, Durmaz B, Karaca E, Soyer N. A New Homozygous Mutation (c.693+1G>A Variant) in the NT5C3A Gene Associated with Pyrimidine-5′-Nucleotidase Deficiency: A Case Report. Ann Clin Case Rep. 2024; 9: 2654.