medigraphic.com
ISSN 1561-2996 (Electronic)
ISSN 0864-0289 (Print)

2022, Number 1

<< Back Next >>

Rev Cubana Hematol Inmunol Hemoter 2022; 38 (1)

Classification and diagnostic methods of membranopathies

Tamayo RY, Agramonte LOM, Miguel MM

Language: Spanish
References: 32
Page: 1-20
PDF size: 379.82 Kb.


ABSTRACT

Introduction: Membranopathies are inherited hemolytic anemias due to qualitative abnormalities or quantitative deficiencies of red blood cell cytoskeletal proteins.
Objective: to update the diagnosis of membranopathies with the inclusion of the latest recommendations from the committee of expert groups at the national and international level.
Methods: A review of the literature in English and Spanish was carried out, through the PubMed website and the academic search engine Google, in articles published in the last five years.
Analysis and synthesis of information: The diseases of greatest clinical interest are: spherocytocis, elliptocytosis and hereditary stomatocytosis. These are generally inherited with an autosomal dominant character but there are forms that are transmitted recessively, without ruling out a possible de novo mutation. For its diagnosis, tests are used that include the study of red blood cell morphology, osmotic fragility, acidified glycerol lysis, hypertonic cryohemolysis, eosin-5'-maleimide binding test by flow cytometry, sodium dodecyl sulfate polyacrylamide gel electrophoresis and ectacytometry.
Conclusions: Membranopathies can be preliminarily suspected taking into account some alterations in erythrocyte morphology, although the diagnosis is based on family studies and others confirming the disease, such as molecular studies. Healthcare professionals caring for young patients with anemia should consider the possibility of hemolytic anemia due to red cell membrane disorders.


REFERENCES

  1. Donatoa H, Crispb RL, Rapettia MC, García E, Attief A. Esferocitosis hereditaria. Revisión. Parte I. Historia, demografía, etiopatogenia y diagnóstico. Arch Argent Pediatr. 2015;113(1):69-80.

  2. Del Orbe Barreto RA, García-Orad A, Arrizabalaga B. Implementación de la Next Generation Sequencing en el diagnóstico de las Anemias Hemolíticas Congénitas. (Tesis doctoral). España: Universidad del País Vasco; 2016.

  3. Vives Corrons JL, Mañú Pereira M del M, Trujillo JP, Surrallés J, Sevilla J. Anemias raras y fallos medulares hereditarios. Arbor [Internet]. Sep 2018. [acceso 25/01/2021];194(789):a463. Disponible en: https://arbor.revistas.csic.es/index.php/arbor/article/view/2276

  4. Zaninoni A, Fermo E, Vercellati C, Consonni D, Marcello AP, Zanella A, et al. Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients. Front Physiol. 2018 Apr 27;9:451. DOI: https://10.3389/fphys.2018.00451

  5. Kim Y, Park J, Kim M. Diagnostic approaches for inherited hemolytic anemia in the genetic era. Blood Res. Jun 2017;52(2):84-94. DOI: https://10.5045/br.2017.52.2.84

  6. Flores Delgado C, Herrera FP. Esferocitosis hereditaria, con anemia hemolítica compensada. Reporte de caso. Rev Médica Carriónica. [Internet] 2017[acceso 25/01/2021];4(1):103-8. Disponible en: http://cuerpomedico.hdosdemayo.gob.pe/index.php/revistamedicacarrionica/article/download/157/109.

  7. Manciu S, Matei E, Trandafir B. Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. Chirurgia (Bucur). Mar-Apr 2017;112(2):110-6. DOI: https://10.21614/chirurgia.112.2.110

  8. Donatoa H, Crisp RL, Rapettia MC, Garcíae E, Attief M. Esferocitosis hereditaria. Revisión. Parte II. Manifestaciones clínicas, evolución, complicaciones y tratamiento. Arch Argent Pediatr. 2015; 113(2):168-76.

  9. Deng Z, Liao L, Yang W, Lin F. Misdiagnosis of two cases of hereditary spherocytosis in a family and review of published reports. Clin Chim Acta. 2015 Feb;441:6-9. DOI: https://10.1016/j.cca.2014.12.002

  10. Choi HS, Choi Q, Kim JA, Im KO, Park SN, Park Y, et al. Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte. Orphanet J Rare Dis. May 23 2019;14(1):114. DOI: https://10.1186/s13023-019-1070-0

  11. Crisp RL, García E, Solari L, Rapetti MC, Nesse A, Donato H. Esferocitosis hereditaria: experiencia clínica y diagnóstica en Argentina. Acta Bioquím Clín Latinoam. 2017;51(3):307-18.

  12. Zamora EA, Schaefer CA. Hereditary Spherocytosis. [acceso 20/07/2021];In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; Sep 2021 - Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK539797/

  13. Svidnicki MCCM, Zanetta GK, Congrains-Castillo A, Costa FF, Saad STO. Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil. Ann Hematol. May 2020;99(5):955- 62. DOI: https://10.1007/s00277-020-03986-8

  14. Charoenkwan P, Natesirinilkul R, Choeyprasert W, Kulsumritpon N, Sangiamporn O. Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. J Pediatr Hematol Oncol. Mar 2017; 39(2):e69-e70. DOI: https://10.1097/MPH.0000000000000750

  15. Da Costa L, Galimand J, Fenneteau O, Mohandas N. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Reviews. 2013;27(4):167-78.

  16. Kjelland JD, Dwyre DM, Jonas BA. Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia. Case Rep Hematol. 2017;2017:3625946. DOI: https://10.1155/2017/3625946

  17. Terry-Leonard N, Mendoza-Hernández C. Valor del frotis de sangre periférica como orientación diagnóstica en las anemias hemolíticas. Medisur [Internet].2019 [acceso 18/11/2020]; 17(5):[aprox. 12 p.] Disponible en: http://medisur.sld.cu/index.php/medisur/article/view/4407

  18. Chiappe G. Anemias hemolíticas. Revisión de algoritmos diagnósticos de anemias hemolíticas no autoinmunes en nuestro país. Hematología. Oct 2015 [acceso 18/12/2020];19(Número Extraordinario. XXII Congreso):20-4. Disponible en: http://www.sah.org.ar/revista/numeros/05diagnostico-vol%2019-extra.pdf.

  19. Bayhan T, Ünal S, Gümrük F. Hereditary Elliptocytosis with Pyropoikilocytosis. Turk J Haematol. Mar 2016;33(1):86-7. DOI: https://10.4274/tjh.2015.0054

  20. Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, et al. Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mol Dis. 2016 Oct;61:4-9. DOI: https://10.1016/j.bcmd.2016.07.003

  21. Naoum FA, Naoum PC. Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report. Hematol Transfus Cell Ther. Jan-Mar 2020;42(1):87-89. DOI: https://10.1016/j.htct.2019.01.005

  22. Soler Noda G, Peña Leyva K, Forrellat Barrios M. Anemias hemolíticas hereditarias por defectos en la membrana de los eritrocitos. Rev Cubana Hematol Inmunol Hemoter. [Internet].2020 [acceso 25/01/2021];36(2):e1102. Disponible en: http://revhematologia.sld.cu/index.php/hih/article/view/1098

  23. Zaidi AU, Buck S, Gadgeel M, Herrera-Martinez M, Mohan A, Johnson K, et al. Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis. Front Physiol. Jun 2020;11:636. DOI: https://10.3389/fphys.2020.00636

  24. Del Orbe Barreto R, Arrizabalaga B, De la Hoz Rastrollo AB, García-Orad A, Gonzalez Vallejo I, Bento C, et al. Hereditary xerocytosis, a misleading anemia. Ann Hematol. Sep 2016; 95(9):1545-6. DOI: https://doi.org/10.1007/s00277-016-2716-9

  25. Mohandas N. Inherited hemolytic anemia: a possessive beginner's guide. Hematology Am Soc Hematol Educ Program. Nov 2018;2018(1):377-81. DOI: https://10.1182/asheducation-2018.1.377

  26. Reithmeier RA, Casey JR, Kalli AC, Sansom MS, Alguel Y, Iwata S. Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. Biochim Biophys Acta. Jul 2016;1858(7 Pt A):1507-32. DOI: https://10.1016/j.bbamem.2016.03.030

  27. Andolfo I, Russo R, Gambale A, Iolascon A. New insights on hereditary erythrocyte membrane defects. Haematologica. Nov 2016;101(11):1284-94. DOI: https://10.3324/haematol.2016.142463

  28. Ciepiela O. Old and new insights into the diagnosis of hereditary spherocytosis. Ann Transl Med. 2018 Sep;6(17):339. DOI: https://10.21037/atm.2018.07.35

  29. King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, et al. International Council for Standardization in Haematology ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. Jun 2015;37(3):304-25. DOI: https://10.1111/ijlh.12335

  30. Chari PS, Prasad S. Flow Cytometric Eosin-5'-Maleimide Test is a Sensitive Screen for Hereditary Spherocytosis. Indian J Hematol Blood Transfus. Jul 2018;34(3):491-4. DOI: https://10.1007/s12288-017-0907-8

  31. Farias MG. Advances in laboratory diagnosis of hereditary spherocytosis. Clin Chem Lab Med. Jun 2017;55(7):944-8. DOI: https://10.1515/cclm-2016-0738

  32. Da Costa L, Suner L, Galimand J, Bonnel A, Pascreau T, Couque N, et al. Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer. Blood Cells Mol Dis. Jan 2016;56(1):9-22. DOI: https://10.1016/j.bcmd.2015.09.001




2020     |     www.medigraphic.com