Vol. 24 No. 1b (2024): Special Issue
Open Access
Peer Reviewed

Navigating Non-Immune Hemolytic Anemia Membranopathy: Definitions to Clinical Strategies

Authors

Lu'lu Al Fatina Zahira , Ayda Fitri Madani , Nilam Nurmilatun Kamilah , Zhafirah Amany , Andina Nabilah Mario , Annisa Risqi Amaliya , Ini Hidayat Makbul , Luthfi Zakiyyah , I Nengah Andra Putra Pramudya , Made Raditya Arhya Putra

DOI:

10.29303/jbt.v24i1b.7957

Published:

2024-12-14

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Abstract

Anemia may arise from increased destruction of erythrocytes, blood loss, or impaired erythropoiesis, as indicated by diminished levels of red blood cells (RBCs) or hemoglobin. Hemolytic anemia involves accelerated RBC lysis that surpasses the bone marrow's compensatory capacity (approximately 120 days) and is categorized into immune and non-immune types. Non-immune hemolytic anemia is primarily hereditary, comprising enzymes, hemoglobinopathies, and membranopathies. This literature review specifically examines non-immune hemolytic anemia membranopathies, detailing their definitions, classifications, etiologies, pathophysiologies, diagnostics, and management. A thorough literature search was conducted using books, reviews, and case studies. Membranopathies are divided into structural defects, such as hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), and altered membrane transport functions, including hereditary stomatocytosis and hereditary xerocytosis. Common symptoms include fatigue, weakness, jaundice, and dark urine, diagnosed through hematological tests and genetic analysis. Management is primarily supportive, involving blood transfusions and folic acid supplementation, with splenectomy recommended for severe cases. A comprehensive understanding of the pathophysiology of these hereditary conditions is critical for accurate diagnosis and effective treatment, underscoring the importance of continued research into novel therapeutic approaches.

Keywords:

Hereditary spherocytosis, hereditary elliptocytosis, hereditary stomatocytosis, hereditary xerocytosis, membranopathies, Non-immune hemolytic anemia.

References

Andolfo, I., Russo, R., Gambale, A. and Iolascon, A. (2018), “Hereditary stomatocytosis: An underdiagnosed condition”, American Journal of Hematology, doi: 10.1002/ajh.24929.

Baldwin, C., Pandey, J. and Olarewaju, O. (2023), “Hemolytic Anemia”, StatPearls [Internet], available at: https://www.ncbi.nlm.nih.gov/books/NBK558904/ (accessed 3 November 2024).

Barcellini, W. and Fattizzo, B. (2023), “Strategies to overcome the diagnostic challenges of autoimmune hemolytic anemias”, Expert Review of Hematology, doi: 10.1080/17474086.2023.2216930.

Barcellini, W., Zaninoni, A., Giannotta, J.A. and Fattizzo, B. (2020), “New insights in autoimmune hemolytic anemia: From pathogenesis to therapy stage 1”, Journal of Clinical Medicine, doi: 10.3390/jcm9123859.

Beris, P. and Picard, V. (2015), “Non-immune Hemolysis: Diagnostic Considerations”, Seminars in Hematology, doi: 10.1053/j.seminhematol.2015.07.005.

Chen, Y., Lin, Q., Ni, W., Deng, K. and Li, L. (2023), “Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia”, Journal of Clinical Laboratory Analysis, Vol. 37 No. 23–24, doi: 10.1002/jcla.24991.

Corvinos, M.S., Jiménez, W.T. and Guillén, C. (2024), “Hereditary xerocytosis”, ATLAS DEL GECH, available at: https://atlas.gechem.org/index.php?option=com_k2&view=item&id=1503:hereditary-xerocytosis&lang=en (accessed 11 November 2024).

He, B.J., Liao, L., Deng, Z.F., Tao, Y.F., Xu, Y.C. and Lin, F.Q. (2018), “Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives”, Acta Haematologica, doi: 10.1159/000486229.

Islam, M.S. (2020), “Detection of a Novel Gene Mutation for Hereditary Elliptocytosis”, Clinical Research and Trials, Vol. 6 No. 5, doi: 10.15761/crt.1000320.

Jha, S.K. and Vaqar, S. (2024), “Hereditary Elliptocytosis”, Treasure Island (FL): StatPearls Publishing, available at: https://www.ncbi.nlm.nih.gov/books/NBK562333/ (accessed 10 November 2024).

Kalfa, T.A. (2021), “Diagnosis and clinical management of red cell membrane disorders”, Hematology (United States), Vol. 2021 No. 1, doi: 10.1182/hematology.2021000265.

Kniffin, C.L. (2015), “OVERHYDRATED HEREDITARY STOMATOCYTOSIS”, Online Mendelian Inheritance in Man.

Marcello, A.P., Visconti, C., Vercellati, C., Zaninoni, A., Bianchi, P., Barcellini, W., Aiuti, A., et al. (2023), “Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants”, Pediatric Blood and Cancer, doi: 10.1002/pbc.30344.

Mohandas, N. (2018), “Inherited hemolytic anemia: A possessive beginner’s guide”, Hematology (United States), doi: 10.1182/asheducation-2018.1.377.

Pang, L., Zeng, Z., Ding, Y., Huang, H. and Li, H. (2023), “Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c”, Frontiers in Medicine, Vol. 10, doi: 10.3389/fmed.2023.1301760.

Phillips, J. and Henderson, A.C. (2018), “Hemolytic Anemia, Evaluation”, American Family Physician, Vol. 98 No. 6.

Picard, V., Guitton, C., Thuret, I., Rose, C., Bendelac, L., Ghazal, K., Aguilar-Martinez, P., et al. (2019), “Clinical and biological features in PIEZO1-hereditary xerocytosis and gardos channelopathy: A retrospective series of 126 patients”, Haematologica, Vol. 104 No. 8, doi: 10.3324/haematol.2018.205328.

Risinger, M., Glogowska, E., Chonat, S., Zhang, K., Dagaonkar, N., Joiner, C.H., Quinn, C.T., et al. (2018), “Hereditary xerocytosis: Diagnostic considerations”, American Journal of Hematology, doi: 10.1002/ajh.24996.

Sharma, R. and Jain, A. (2024), “Red cell membranopathies: Case series and review of literature”, Pediatric Hematology Oncology Journal, Vol. 9 No. 2, doi: 10.1016/j.phoj.2024.02.003.

Simionato, G., van Wijk, R., Quint, S., Wagner, C., Bianchi, P. and Kaestner, L. (2021), “Rare Anemias: Are Their Names Just Smoke and Mirrors?”, Frontiers in Physiology, Vol. 12, doi: 10.3389/fphys.2021.690604.

Theis, S.R. and Hashmi, M.F. (2022), “Coombs Test”, Treasure Island (FL): StatPearls Publishing, available at: https://www.ncbi.nlm.nih.gov/sites/books/NBK547707/ (accessed 10 November 2024).

Warang, P. and Kedar, P. (2018), “Hereditary Elliptocytosis: A Rare Red Cell Membrane Disorder”, Indian Journal of Hematology and Blood Transfusion, Vol. 34 No. 4, doi: 10.1007/s12288-018-0986-1.

Wu, Y., Liao, L. and Lin, F. (2021), “The diagnostic protocol for hereditary spherocytosis-2021 update”, Journal of Clinical Laboratory Analysis, doi: 10.1002/jcla.24034.

Yaish, H.M., Christensen, R.D. and Lemons, R.S. (2017), “Neonatal nonimmune hemolytic anemia”, Current Opinion in Pediatrics, doi: 10.1097/MOP.0000000000000440.

Zamora, E.A. and Schaefer, C.A. (2023), “Hereditary Spherocytosis”, Treasure Island (FL): StatPearls Publishing, available at: https://www.ncbi.nlm.nih.gov/books/NBK539797/ (accessed 11 November 2024)

Author Biography

Lu'lu Al Fatina Zahira, University of Mataram

Author Origin : Indonesia

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How to Cite

Zahira, L. A. F., Madani , A. F., Kamilah , N. N., Amany , Z., Mario , A. N., Amaliya , A. R., … Putra , M. R. A. (2024). Navigating Non-Immune Hemolytic Anemia Membranopathy: Definitions to Clinical Strategies . Jurnal Biologi Tropis, 24(1b), 318–326. https://doi.org/10.29303/jbt.v24i1b.7957

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