Rare anemias in adolescents
Keywords:
KEY WORDS: ADOLESCENCE,ADOLESCENCE ANEMIA, ERYTHROCYTESAbstract
ABSTRACT
Anemia can be the consequence of a single disease or an expression of external factors mainly nutritional deficiencies. Genetic issues are important in the primary care of adolescents because a genetic diagnosis may not be made until adolescence when the teenager presents with the first signs or symptoms of the condition. This situation is relatively frequent for rare anemias (RA) an important, and relatively heterogeneous group of rare diseases (RD) where anemia is the first and most relevant clinical manifestation of the disease. RA are characterized by their low prevalence (< 1 per 10,000 individuals), and, in some cases, by their complex mechanism. For these reasons, RA are little known, even among health professionals, and patients tend to remain undiagnosed or misdiagnosed for long periods of time, making it impossible to know the prognosis of the disease or to carry out genetic counseling for future pregnancies. Since this situation is an important cause of anxiety for both adolescent patients and their families, the physician’s knowledge of the natural history of a genetic disease will be the key factor for the anticipatory guidance for diagnosis and clinical follow-up. RA can be due to three primary causes: 1.Bone marrow erythropoietic defects, 2. Excessive destruction of mature red blood cells (hemolysis), and 3. Blood loss (bleeding). More than 80% of RAs are hereditary, and about 20% remain undiagnosed but when their first clinical manifestations appear during childhood or adolescence, they are frequently misdiagnosed with iron deficiency. For this reason, RA are today an important clinical and social health problem worldwide
References
(1) WHO. Young People’s Health. A challenge for Society. Geneva, Switzerland; 1986.
(2) Feyisso Shaka M, Wondimagegne YA. Anemia, a moderate public health concern among adolerscents in South Ethiopia PLoS ONE 2017; 13(7): e0191467. https://doi.org/10.1371/journal. pone.0191467
(3) Black, R. E. et al. Maternal and child undernutrition and overweight in low-income and middle-income countries. Lancet 2013; 382: 427–451
(4) Fauci AS. Harrison’s Principles of Internal Medicine (2012). 18th ed. McGraw-Hill Companies
(5) Brotanek JM, Gosz J, Weitzman M, Flores G. Iron deficiency in early childhood in the United States: : risk factors and racial/ethnic disparities. Pediatrics 2007; 120: 568-75
(6) Balcı YI, Karabulut A, Gürses D, Çövüt İE. Prevalence and risk factors of anemia among adolescents in Denizli, Turkey. Iran J Pediatr 2012; 22: 77-81
.
(7) Michaud PA, Suris JC and Viner R The adolescent with a chronic condition : Epidemiology, developmental issues and health care provision. WHO Library Cataloguing-in-Publication Data. ISBN 978 92 4 159570 4. World Health Organization 2007.
(8) Vives Corrons JL, Mañú Pereira MM ENERCA:The European network for patients with rare Anaemias. Journal of Rare Disorders: Diagnosis & Therapy 2015; 1:12-14
(9) Vives Corrons JL, Mañú Pereira MM, Romeo-Casabona C, Nicolas P, Gulbis B, et al. ENERCA. Recommendations for centres of expertise in rare anaemias. A Wite Book. Prodrug Multimedia, S.L. SBN: 978-84-939018-8-2. 2014
(10) Vives Corrons JL. EuroBloodNet: From rare anaemias to rare haematological diseases, a transitional proposal for European reference network (ERN). Journal of Rare Disorders: Diagnosis & Therapy.2016; 2.47-50
(11) Vives-Corrons JL. The Rare Anaemias, Rare Diseases, Zhan He Wu, IntechOpen. 2019; DOI: 10.5772/intechopen.86986.
(12) Vives Corrons, JL., Mañú Pereira, MM., Trujillo, JP., Surrallés, J. and Sevilla, J. Rare anemias and hereditary bone marrow failure. Arbor. 2018; 194 (789) a463. https://doi.org/10.3989/arbor.2018.789n3005
(13) Da Costa L, Leblanc T, Mohandas N. Diamond-Blackfan anemia. Blood 2020; 136 : 1262–1273.
(14) Iolascon, A., Andolfo, I., and Russo, R.Congenital dyserythropoietic
anemias. Blood 2920; 136, 1274–1283. doi: 10.1182/blood.2019000948
(15) Russo R, Marra R, Rosato BE, Iolascon A and Andolfo I (2020). Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary anemias.
Front. Physiol. 11:613559. doi: 10.3389/fphys.2020.613559
(16) Risinger M, Kalfa Th. (2020).Red cell membrane disorders: structure meets function. Blood 136 : 1250–1261.
(17) Mariani M, Barcellini W, Vercellati C, et al. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica 2008; 93:1310-1315.
(18) Bianchi, P., Fermo, E. y Zanella, A. (2012). Reply to “Flow cytometry test for he reditary spherocytosis”. Haematologica, 97 (12), e50-e51.
(19) Llaudet-Planas E, Vives-Corrons JL,Rizzuto V, Gómez-Ramírez P, Sevilla Navarro J, Coll Sibina MT, et al. Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane. International Journal of Laboratory Hematology 2018; 40:94-102.DOI: 10.1111/ijlh.12746 Epub.2017 Oct 10
(20) Vives-Corrons JL, Krishnevskaya E, Hernandez Rodriguez, Ancochea A.. Characterization of hereditary red blood cell membranopathies using combined
targeted next-generation sequencing and osmotic gradient ektacytometry. Int J Hematol. 2020 113 : 163-174
(21) Gallanger PG. Disorders of erythrocyte hydration. Blood. 2017;130: 2699-2708
(22) Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L , De Franceschi L et al. Recommendations regarding splenectomy in hereditary hemolytic anemias Haematologica. 2017; 102:1304-1313
(23) Luzzatto L, Ally M,Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Blood. 2020; 136: 1225-1240. 2020
(24) Luzzatto L, Seneca E. G6PD deficiency: A classic example of pharmacogenetics with on-going clinical implications. British Journal of Haematology. 2014;164:469-480
(25) van Wijk, R., and van Solinge, W. W. The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis.. Blood 2005 106:4034–4042
(26) Bianchi, P., Fermo, E., Lezon-Geyda, K., van Beers, E. J., Morton, H. D., Barcellini,W.et al. Genotype-phenotype correlation and molecular heterogeneityin pyruvate kinase deficiency. Am. J. Hematol. 2020; 95, 472–482
(27) Grace R, Barcellini W. Management of pyruvate kinase deficiency in children and adults Blood (2020) 136 :1241–1249.
(28) Koralkova, P., van Solinge, W. W., and van Wijk, R. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology,clinical aspects, and laboratory diagnosis. Int. J. Lab. Hematol. 2014; 36: 388–397
(29) Aguilar Martinez P, Angastiniotis M, Eleftheriou A, Gulbis B, et al. Haemoglobinopathies in Europe: Health & migration policy perspectives Orphanet Journal of Rare Diseases. 2014; 9:97-106
(30) Piel FB, Steinberg MH, Rees DC. Sickle cell disease. New England Journal of Medicine. 2017; 376:1561-1573
(31) Daniel Y, Elion J, Allaf B, Badens C, Bouva MJ, et al. Newborn screening for sickle cell disease in Europe. International Journal of Neonatal Screening. 2019; 5:15-21
(32) Jordan LC, King AA, Shatz J, Vichinsky E, Fox CK, McKinstryRC, Teffler P, et al. American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults, Blood Adv 2020 4:1554–1588.
(33) Angastiniotis M, Lobitz S. Thalassemias: An overview.International Journal of Neonatal Screening. 2019; 5:16-23
(34) Higgs, D. R., Engel, J. D., and Stamatoyannopoulos, G.Thalassaemia. Lancet 2012; 379, 373–383
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