Gendron Nicolas, Arlet Jean-Benoit, Gaussem Pascale, Radford-Weiss Isabelle, Dupeux Sidonie, Rosain Jérémie, La Tour Régis Peffault de, Darnige Luc
Service d'hématologie biologique, Hôpital européen Georges Pompidou, AP-HP, Paris, France, Université Paris Descartes, Sorbonne Paris Cité, Paris, France, Inserm UMR-S1140, Paris, France.
Service de médecine interne, Hôpital européen Georges Pompidou, AP-HP, Paris, France, Inserm1163, CNRS ERL 8254, Institut Imagine, Paris, France.
Ann Biol Clin (Paris). 2017 Oct 1;75(5):580-588. doi: 10.1684/abc.2017.1277.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disorder that must be correctly diagnose because it is a chronic disease with a real impact on the quality of life and the survival of the patients. PNH screening of all patients with anemia or thrombosis is not recommended. We report the case of a 71-year-old male patient referred for chronic anemia. Anemia work-up revealed a misunderstood association of a hemolytic anemia with a negative direct antiglobulin test and iron deficiency. The patient exhibits biological signs of intravascular hemolysis, as well as a recent history of two episodes of deep vein thrombosis. Screening for PNH by flow cytometry shown a PNH clone with a size of approximately 33% of the granulocytes and 11% of the red blood cells. An interstitial deletion of the chromosome 13 was found in the medullar karyotype. PNH through chronic intravascular hemolysis induces an urinary iron loss. This is the only cause of hemolytic anemia inducing iron deficiency.
阵发性睡眠性血红蛋白尿（PNH）是一种罕见的获得性造血干细胞疾病，必须正确诊断，因为它是一种对患者生活质量和生存有实际影响的慢性病。不建议对所有贫血或血栓形成患者进行PNH筛查。我们报告一例71岁男性慢性贫血患者。贫血检查发现溶血性贫血与直接抗球蛋白试验阴性及缺铁之间存在误解的关联。该患者表现出血管内溶血的生物学体征，以及近期有两次深静脉血栓形成发作的病史。通过流式细胞术筛查PNH显示，PNH克隆约占粒细胞的33%和红细胞的11%。在骨髓核型中发现13号染色体间质性缺失。PNH通过慢性血管内溶血导致尿铁丢失。这是导致缺铁性溶血性贫血的唯一原因。
