Institute for Leukaemia Research Josep Carreras Erythropathology and Rare Anaemias Unit. Catalonia (Spain).
Acta Biomed. 2021 Feb 18;92(1):e2021169. doi: 10.23750/abm.v92i1.11345.
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.
贫血可能是单一疾病的结果，也可能是外部因素（主要是营养缺乏）的表现。遗传问题在青少年的初级保健中很重要，因为遗传诊断可能直到青少年出现该疾病的第一个迹象或症状时才做出。对于罕见性贫血（RA）这种情况相对常见，它是一组重要且相对异质性的罕见疾病（RD），贫血是该疾病的第一个也是最重要的临床表现。RA 的特点是患病率低（<1/10000 人），在某些情况下，其发病机制复杂。由于这些原因，RA 知之甚少，甚至在卫生专业人员中也是如此，患者往往长期未被诊断或误诊，从而无法了解疾病的预后或对未来妊娠进行遗传咨询。由于这种情况是青少年患者及其家属焦虑的一个重要原因，因此医生对遗传疾病自然史的了解将是进行诊断和临床随访预期指导的关键因素。RA 可能由以下三个主要原因引起：1. 骨髓红细胞生成缺陷，2. 成熟红细胞过度破坏（溶血），3. 失血（出血）。超过 80%的 RA 是遗传性的，约 20%仍未被诊断，但当它们的第一个临床表现出现在儿童或青少年时期时，它们经常被误诊为缺铁。因此，RA 如今是全球一个重要的临床和社会健康问题。
