Lode Holger N, Krings Gregor, Schulze-Neick Ingram, Dähmlow Steffen, Schroeder Ulrike, Bonnet Ragnhild, DaPalma Joao, Luck Werner, Strauss Gabriele, Berger Felix, Gaedicke Gerhard
Department of Pediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany.
J Pediatr Hematol Oncol. 2007 Mar;29(3):173-7. doi: 10.1097/MPH.0b013e318032568c.
The development of pulmonary arterial hypertension (PAH) is the leading cause of mortality in patients with thalassemia and sickle cell anemia and was reported to occur in hemolytic anemias such as hereditary stomatocytosis, and paroxysmal nocturnal hemoglobinuria. Here, we report for the first time on the development of PAH in a patient with Hb-Mainz hemolytic anemia. Hb-Mainz is an unstable hemoglobin variant resulting from mutations at codon 98 of the beta chain gene (Val>Glu) characterized by severe chronic hemolytic anemia. The development of PAH in this patient further supports the contention that there is a clinical syndrome of hemolysis-associated development of PAH.
肺动脉高压（PAH）的发展是地中海贫血和镰状细胞贫血患者死亡的主要原因，据报道，在遗传性口形红细胞增多症和阵发性夜间血红蛋白尿等溶血性贫血中也会发生。在此，我们首次报告了一名患有Hb-Mainz溶血性贫血的患者发生PAH的情况。Hb-Mainz是一种不稳定的血红蛋白变体，由β链基因第98密码子突变（Val>Glu）导致，其特征为严重的慢性溶血性贫血。该患者发生PAH进一步支持了这样一种观点，即存在一种与溶血相关的PAH发展的临床综合征。
