医学
再生障碍性贫血
疾病
骨髓
骨髓衰竭
骨髓增生异常综合症
贫血
造血
病理
儿科
免疫学
内科学
干细胞
生物
遗传学
作者
Alicia Rovò,Carlo Dufour,André Thewis
出处
期刊:Elsevier eBooks
[Elsevier]
日期:2017-01-01
卷期号:: 35-50
标识
DOI:10.1016/b978-0-12-804152-9.00003-8
摘要
Aplastic anemia (AA) is a rare, severe, nonmalignant disease. The diagnosis is difficult since there is no disease-specific marker and the lack of hematopoietic cells. Because of the immediate risk of disease complications, such as infections and bleedings, the diagnosis has to be done quickly and accurately. Rigorous, stepwise diagnostic phases should be followed to confirm, characterize, and classify the disease and its severity. Blood count and bone marrow investigation are the basis of the diagnosis. However, additional investigations are increasingly needed, such as flow-cytometry, genetic, and molecular genetics. The most difficult task in adult patients is the distinction between AA and hypoplastic myelodysplastic syndromes, and in children and younger adults, the recognition of hereditary forms of marrow failure syndromes.
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