Arbor, Vol 194, No 789 (2018)

Anemias raras y fallos medulares hereditarios


https://doi.org/10.3989/arbor.2018.789n3005

Joan Lluis Vives Corrons
Instituto de Investigación contra la Leucemia Josep Carreras. Hospital Clínic. Universidad de Barcelona, España
orcid http://orcid.org/0000-0003-1820-2594

Maria del Mar Mañú Pereira
Instituto de Investigación Vall d’Hebron. Hospital Universitario Vall d’Hebron, España
orcid http://orcid.org/0000-0003-4770-7460

Juan Pablo Trujillo
Universidad Autónoma de Barcelona - Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), España
orcid http://orcid.org/0000-0001-5901-9388

Jordi Surrallés
Universidad Autónoma de Barcelona - Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), España
orcid http://orcid.org/0000-0002-4041-7519

Julián Sevilla
Hospital Infantil Universitario Niño Jesús, España
orcid http://orcid.org/0000-0002-6852-1860

Resumen


Las anemias raras y los fallos medulares hereditarios son enfermedades hematológicas caracterizadas, respectivamente, por una disminución de la concentración de hemoglobina o por diversos grados de defectos en la producción de células hematopoyéticas que conducen desde una citopenia de un solo linaje hasta una de múltiples linajes. Son enfermedades raras y difíciles de diagnosticar debido a la heterogeneidad clínica, citológica y genética. En este artículo abordaremos en primer lugar el diagnóstico de las anemias raras y sus causas principales: fallos medulares, defectos del hematíe y trastornos del metabolismo de los factores de maduración eritrocitario. Seguidamente introduciremos los fallos medulares hereditarios y su patología asociada, como son las malformaciones congénitas y la predisposición tumoral, haciendo especial hincapié en los más frecuentes: la anemia de Fanconi, la disqueratosis congénitca, la anemia de Diamond-Blackfan y el síndrome de Shwachman-Diamond.

Palabras clave


Anemias raras; anemia ferropénica; talasemia; eritrocitos; hemoglobina; anemia de Fanconi; disqueratosis congénita; anemia de Diamond-Blackfan; síndrome de Shwachman-Diamond

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Referencias


Ameziane, N., May, P., Haitjema, A., Vrugt, H. J. van de, Rossum-Fikkert, S. E. van, Ristc, D. […] y Rooimans, M. A. (2015). A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nature Communications, 6, 8829.

Armanios, M., Chen, J.-L., Chang, Y.-P.C., Brodsky, R. A., Hawkins, A., Griffin, C. A. […] y Greider, C. W. (2005). Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proceedings of the National Academy of Sciences of the United States of America, 102 (44), pp. 15960-15964.

Auerbach, A. D. (2003). Diagnosis of Fanconi anemia by diepoxybutane analysis. Current Protocols in Human Genetics, 37 (1), pp. 8.7.1-8.7.15.

Auerbach, A. D. (2009). Fanconi anemia and its diagnosis. Mutation Research / Fundamental and Molecular Mechanisms of Mutagenesis, 668 (1), pp. 4-10.

Bain, B. J. (2005). Diagnosis from the blood smear. New England Journal of Medicine, 353 (5), 498-507.

Bain, B. J. (2011). Haemoglobinopathy diagnosis: algorithms, lessons and pitfalls. Blood Reviews, 25 (5), pp. 205-213.

Bianchi, P., Fermo, E. y Zanella, A. (2012). Reply to “Flow cytometry test for hereditary spherocytosis”. Haematologica, 97 (12), e50-e51.

Bluteau, D., Masliah-Planchon, J., Clairmont, C., Rousseau, A., Ceccaldi, R., Dubois d’Enghien, C. […] y Leblanc, T. (2016). Biallelic inactivation of REV7 is associated with Fanconi anemia. The Journal of Clinical Investigation, 126 (9), pp. 3580-3584.

Bogliolo, M., Schuster, B., Stoepker, C., Derkunt, B., Su, Y., Raams, A. […] y Casado, J. A. (2013). Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia. The American Journal of Human Genetics, 92 (5), pp. 800-806.

Calado, R. T. y Young, N. S. (2009). Telomere diseases. New England Journal of Medicine, 361 (24), pp. 2353-2365.

Callén, E., Casado, J. A., Tischkowitz, M. D., Bueren, J. A., Creus, A., Marcos, R. […] y Winter, J. de. (2005). A common founder mutation in FANCA underlies the world’s highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood, 105 (5), pp. 1946-1949.

Carrillo, J., Martínez, P., Solera, J., Moratilla, C., González, A., Manguán-García, C. […] y Escoda, L. (2012). High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita. Blood Cells, Molecules and Diseases, 49 (3-4), pp. 140-146.

Castellà, M., Pujol, R., Callén, E., Ramírez, M. J., Casado, J. A., Talavera, M. […] y Cela, E. (2011a). Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact. Journal of Medical Genetics, 48 (4), pp. 242-250.

Castellà, M., Pujol, R., Callén, E., Trujillo, J. P., Casado, J. A., Gille, H. [...] y Surrallés, J. (2011b). Origin, functional role and clinical impact of Fanconi anemia FANCA mutations. Blood, 117, 3759-3769.

Ceci, M., Gaviraghi, C., Gorrini, C., Sala, L. A., Offenhauser, N., Carlo Marchisio, P. y Biffo, S. (2003). Release of eIF6 (p27 BBP) from the 60S subunit allows 80S ribosome assembly. Nature, 426 (6966), pp. 579-584.

Dacie, S. J. (2001). The immune haemolytic anaemias: A century of exciting progress in understading. British Journal of Haematology, 114 (4), pp. 770-785.

Dokal, I. y Vulliamy, T. (2008). Inherited aplastic anaemias/bone marrow failure syndromes. Blood Reviews, 22 (3), pp. 141-153.

Dokal, I. y Vulliamy, T. (2010). Inherited bone marrow failure syndromes. Haematologica, 95 (8), 1236-1240.

Dror, Y. (2011). Genetic Basis of Inherited Bone Marrow Failure Syndromes. En Ikehara, K. (ed.). Advances in the Study of Genetic Disorders, pp. 357-392.

Falco L. de, Sánchez M., Silvestri, L., Kannengiesser, C., Muckenthaler, M. U., Iolascon, A. [...] y Beaumont, C. (2013). Iron refractory iron deficiency anemia. Haematologica, 98 (6), pp. 845-853.

Fernández García, M. S. y Teruya-Feldstein, J. (2014). The diagnosis and treatment of dyskeratosis congenita: a review. Journal of Blood Medicine, 5, pp. 157-167.

Goobie, S., Popovic, M., Morrison, J., Ellis, L., Ginzberg, H., Boocock, G.R.B. […] y Hudson, T. J. (2001). Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7. The American Journal of Human Genetics, 68 (4), pp. 1048-1054.

Iolascon, A., Heimpel, H., Wahlin, A. y Tamary, H. (2013). Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood, 122 (13), pp. 2162-2166.

Kedar, P. S., Colah, R. B., Kulkarni, S., Ghosh, K. y Mohanty, D. (2003). Experience with eosin-5’-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders. Clinical & Laboratory Haematology, 25 (6), 373-376.

King, M. J. y Zanella, A. (2013). Hereditary red cell membrane disorders and laboratory diagnostic testing. International Journal of Laboratory Hematology, 35 (3), 237-243.

Kutler, D. I., Singh, B., Satagopan, J., Batish, S. D., Berwick, M., Giampietro, P. F. […] y Auerbach, A. D. (2003). A 20- year perspective on the International Fanconi Anemia Registry (IFAR). Blood, 101 (4), pp. 1249-1256.

Landowski, M., O’Donohue, M. F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A. […] y Gazda, H. T. (2013). Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond- Blackfan anemia. Human Genetics, 132 (11), pp. 1265-1274.

Luzzatto, L. y Seneca, E. (2014). G6PD deficiency: A classic example of pharmacogenetics with on-going clinical implications. British Journal of Haematology, 164 (4), pp. 469-480.

Mirabello, L., Macari, E. R., Jessop, L., Ellis, S. R., Myers, T., Giri, N. […] y Savage, S. A. (2014). Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood, 124, pp. 24-32.

Moore, J. B., Farrar, J. E., Arceci, R. J., Liu, J. M. y Ellis, S.R. (2009). Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. Haematologica, 95, pp. 57-64.

Narla, A. y Ebert, B. L. (2010). Ribosomopathies: human disorders of ribosome dysfunction. Blood, 115, pp. 3196-3205.

Neveling, K., Endt, D., Hoehn, H. y Schindler, D. (2009). Genotype-phenotype correlations in Fanconi anemia. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 668 (1), pp. 73-91.

Noris, M. y Remuzzi, G. (2009). Atypical Hemolytic-Uremic Syndrome”. New England Journal of Medicine, 361 (17), pp. 1676-1687.

Parker, C. J. (2012). Paroxysmal nocturnal hemoglobinuria. Current Opinion in Hematology, 19 (3), pp. 141-148.

Parrella, S., Aspesi, A., Quarello, P., Garelli, E., Pavesi, E., Carando, A. […] y Dianzani, I. (2014). Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. Pediatric Blood & Cancer, 61 (7), pp. 1319-1321.

Parry, E. M., Alder, J. K., Qi, X., Chen, J. J. y Armanios, M. (2011). Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood, 117, pp. 5607-5611.

Pasricha, S.-R. (2014). Anemia: a comprehensive global estimate. Blood, 123 (5), pp. 611-612.

Rosenberg, P. S., Tamary, H. y Alter, B. P. (2011). How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel. American Journal of Medical Genetics Part A, 155 (8), pp. 1877-1883.

Rothbaum, R., Perrault, J., Vlachos, A., Cipolli, M., Alter, B. P., Burroughs, S. […] y Rossi, T. (2002). Shwachman- Diamond syndrome: Report from an international conference. The Journal of Pediatrics, 141 (2), pp. 266-270.

Ruggero, D. y Shimamura, A. (2014). Marrow failure: a window into ribosome biology. Blood, 124 (18), pp. 27-84-2792.

Sans-Sabrafen, J., Besses Raebel, C. y Vives Corrons, J. L. (2006). Hematología clínica (5.ª ed.). Elsevier.

Savage, S. A. (2013). Dyskeratosis Congenita. GeneReviews. [En línea]. Disponible en http://www.ncbi.nlm.nih. gov/books/NBK22301/

Shimamura, A. y Alter, B. P. (2010). Pathophysiology and management of inherited bone marrow failure syndromes. Blood Reviews, 24 (3), pp. 101-122.

Tolar, J., Adair, J. E., Antoniou, M., Bartholomae, C. C., Becker, P. S., Blazar, B. R. […] y Thrasher, A. J. (2011). Stem Cell Gene Therapy for Fanconi Anemia: Report from the 1st International Fanconi Anemia Gene Therapy Working Group Meeting. Molecular Therapy, 19 (7), pp. 1193-1198.

Tremblay, J. P., Xiao, X., Aartsma-Rus, A., Barbas, C., Blau, H. M., Bogdanove, A. J. […] y Gao, G. (2013). Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases. Molecular Therapy, 21 (2), pp. 266-268.

Tsangaris, E., Klaassen, R., Fernández, C. V., Yanofsky, R., Shereck, E., Champagne, J. […] y Dror, Y. (2011). Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. Journal of Medical Genetics, 48 (9), pp. 618-628.

Verlinsky, Y., Rechitsky, S., Schoolcraft, W., Strom, C. y Kuliev, A. (2001). Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA, 285 (24), pp. 3130-3133.

Vives Corrons, J. L. (2013). Why ENERCA? European Network for Rare and Congenital Anaemias. Genome Research & Society, 10, pp. 33-37.

Vives Corrons, J. L. y Aguilar i Bascompte, J. L. (2014). Manual de técnicas de laboratorio en hematología (4.ª ed.). Elsevier.

Vlachos, A., Rosenberg, P. S., Atsidaftos, E., Alter, B. P. y Lipton, J. M. (2012). The incidence of neoplasia in Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. Blood, 119 (16), pp. 3815-3819.

Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J. y Dokal, I. (2004). Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nature Genetics, 36 (5), pp. 447-449.

Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V. y Dokal, I. (2013). Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. The American Journal of Human Genetics, 92 (3), pp. 448-453.

Wegman-Ostrosky, T. y Savage, S. A. (2017). The genomics of inherited bone marrow failure: from mechanism to the clinic. British Journal of Haematology, 177 (4), pp. 526-542.

World Health Organization (2011). Haemoglobin concentrations for the diagnosis of anaemia and assessment of severity. Vitamin and Mineral Nutrition Information System. [En línea]. Disponible en http://www.who.int/ vmnis/indicators/haemoglobin.pdf

Zanella, A., Fermo, E., Bianchi, P. y Valentini, G. (2005). Red cell pyruvate kinase deficiency: molecular and clinical aspects. British Journal of Haematology, 130 (1), pp. 11-25.




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