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Correspondence to Author: Ahija Cqheekati, 

Ahija Cqheekati, Internal Medicine, St. George’s University School of Medicine| Morristown Medical Center, Morristown, New Jersey, USA.

Abstract : The loss of erythrocyte surface proteins causes paroxysmal nocturnal hemoglobinuria (PNH), which in turn triggers complement activation and all of its consequences. In this case study, a 57-year-old man with myelofibrosis (MF) and post-essential thrombocythemia (ET) presents with symptoms of anemia and hemolysis. Despite the workup localizing hemolysis to the intramedullary region, the precise diagnosis remained unclear, necessitating a protracted course of steroid medication to control anemia. The patient was treated with complement inhibitors until the medication failed, and the hemolysis was ultimately linked to PNH, which was identified using flow cytometry. In the end, he had a successful hematopoietic cell transplant (HCT), and flow cytometry performed after the transplant revealed that his PNH had completely resolved. Although PNH has been recognized as a myelodysplastic disease progression,Its uncommon development in myeloproliferative neoplasms is little understood by its mechanisms. In addition, diagnosis and treatment are difficult due to its rarity and frequently ambiguous symptoms. This is the first instance to be treated with HCT and the second case of a JAK2-negative, CALRpositive post-ET MF that has been documented. This example raises questions about the clinical importance of the relationship between MF and PNH, how it affects management, and whether HCT can be used as a curative treatment for these individuals who do not respond to complement inhibitor therapy.

Introduction: The rare condition known as paroxysmal nocturnal hemoglobinuria (PNH) gets its name from one of its unusual symptoms. A variety of other non-specific symptoms, such as hemolysis, cytopenias, exhaustion, and dyspnea, might be present with PNH. The PIGA gene mutates as a result. entails an inability to produce the erythrocyte surface inhibitory proteins CD55 and CD59, which results in uncontrollably activating complement [1]. There are further downstream mutations that have been found to cause PNH. Using flow cytometry, PNH is identified and treated with the monoclonal antibody eculizumab, which blocks the terminal complement. For PNH, bone marrow transplantation is still the sole treatment available.

Keywords :CALR, case report, myelofibrosis, PNH, thrombocythemia

Citation:

Ahija Cqheekati. Handling paroxysmal nocturnal hemoglobinuria in post-essential thrombocythemia myelofibrosis with CALR mutation: A case Report.. The American Journal of Hematology 2024.