Ciepiela Olga
Department of Laboratory Diagnostics, Medical University of Warsaw, Warsaw, Poland.
Ann Transl Med. 2018 Sep;6(17):339. doi: 10.21037/atm.2018.07.35.
Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide.
遗传性球形红细胞增多症(HS)属于由质膜蛋白缺乏引起的先天性溶血性贫血。如果诊断过晚,HS会有包括胆结石和严重贫血在内的长期并发症风险。本文讨论了HS筛查和诊断方面的进展,特别关注方法学,其中大多数方法在全球临床实验室都可获得。