A Thrilling Case of Anemia

Mohammed Shanil P; Farsana Jasmin K

doi:10.32628/IJSRST2411493

Authors

Mohammed Shanil P DM Cardiology Resident, Government medical college, Kannur Kerala, India Author https://orcid.org/0000-0002-2001-3912
Farsana Jasmin K MD Radiotherapy Resident, Government medical college, Kozhikode, India Author

DOI:

https://doi.org/10.32628/IJSRST2411493

Keywords:

Paroxysmal Nocturnal Hemoglobinuria, Glycosylphosphatidylinositol, Eculizumab, Ravulizumab, Pegcetacoplan

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder that presents with triad of peripheral blood cytopenias, hemolytic anemia and thrombosis. The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for hemolysis and other PNH manifestations. GPI anchor protein deficiency is due to acquired somatic mutations in phosphatidylinositol glycan class A (PIGA) gene.Terminal complement inhibition with eculizumab and allogeneic bone marrow transplantation (BMT) are the only widely effective therapies for patients with classical PNH. Compared to eculizumab and ravulizumab that block the fifth component of complement (C5), pegcetacoplan blocks the third component of complement (C3).

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References

Red Blood Cell Disease (Anemia) Group, Chinese Society of Hematology, Chinese Medical Association. [Guidelines for the diagnosis and management of paroxysmal nocturnal hemoglobinuria (2024)]. Zhonghua Xue Ye Xue Za Zhi. 2024 Aug 14;45(8):727-737. Chinese. doi: 10.3760/cma.j.cn121090-20240624-00232.

Patil, P., Kataria, B., Redkar, V., Banait, A., Shilpa, C., Patil, & Khetani, V. (08 2024). Automated Detection of Tuberculosis Using Deep Learning Algorithms on Chest X-rays. Frontiers in Health Informatics, 13, 218–229. https://healthinformaticsjournal.com/index.php/IJMI/article/view/20

Illingworth AJ, Marinov I, Sutherland DR. Immunophenotyping of Paroxysmal Nocturnal Hemoglobinuria (PNH). Methods Mol Biol. 2019;2032:323-354. doi: 10.1007/978-1-4939-9650-6_18. DOI: https://doi.org/10.1007/978-1-4939-9650-6_18

van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. DOI: https://doi.org/10.1002/ajmg.a.36184

Preis M, Lowrey CH. Laboratory tests for paroxysmal nocturnal hemoglobinuria. Am J Hematol. 2014 Mar;89(3):339-41. doi: 10.1002/ajh.23612. DOI: https://doi.org/10.1002/ajh.23612

Almoghazy S, Straight sinus thrombosis (SST). Case study, Radiopaedia.org (Accessed on 10 Nov 2024) https://doi.org/10.53347/rID-90251 DOI: https://doi.org/10.53347/rID-90251