Paroxysmal nocturnal hemoglobinuria and concurrent JAK2V617F mutation

J M Lee,J P Maciejewski,E Padron,D J Araten,K Shain,M Clemente,L Zhang,A F List,R Tiu,L Sokol,C L O'Keefe,G Caceres,C Sugimori,M Afable,P K Epling-Burnette

doi:10.1038/bcj.2012.7

Abstract

Paroxysmal nocturnal hemoglobinuria and concurrent JAK2V617F mutation

Highlights

Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic and pro-thrombotic disorder associated with the clonal expansion of hematopoietic stem cells harboring somatic mutations in the PIG-A gene.[1]
Long-term colony-forming assays and in vivo murine models have failed to show that PIG-A mutations are alone sufficient to drive clonal expansion.[5,6]
There are two leading hypotheses to account for clonal expansion of PIG-A-null stem cells: (i) clonal selection and (ii) second mutations

Summary

Introduction

Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic and pro-thrombotic disorder associated with the clonal expansion of hematopoietic stem cells harboring somatic mutations in the PIG-A gene.[1]. The median WBC erythrocytes were GPI (À), confirming the diagnosis of PNH, and was 4.48 Â 109/l (range, 2.44 -- 8.90), median Hgb level was the patient was initiated on eculizumab.

Results

Conclusion