Rare anemias in adolescents
Vives Corrons, Juan Luís (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Krishnevskaya, Elena (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)

Data:	2021
Resum:	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 heteroge-neous group of rare diseases (RD) where anaemia is the first and most relevant clinical manifestation. RA are characterised by their low prevalence (< 5 cases 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 impossible to know the prognosis of the disease, or to carry out genetic counselling 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 challenge worldwide. (www. actabiomedica. it).
Ajuts:	European Commission 2019-1-TR01-KA202-076789
Nota:	Fundació Carreras
Nota:	We are indebted to the European Commission for the Equality Plus (Erasmus +) Grant (Ref. 2019-1-TR01-KA202-076789).
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Adolescence ; Anemia ; Erythrocytes
Publicat a:	Acta Biomedica, Vol. 92 Núm. 1 (may 2021) , p. 1-11, ISSN 2531-6745

DOI: 10.23750/abm.v92i1.11345
PMID: 33682847

11 p, 1.2 MB

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