Tanphaichitr V S, Suvatte V, Mahasandana C, Veerakul G, Pung-amritt P, Tachavanich K, Ideguchi H
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Southeast Asian J Trop Med Public Health. 1997;28 Suppl 3:64-8.
In Thailand, the most common cause of chronic hemolytic anemia is thalassemia hemoglobinopathy. We report here a 10-year-old girl with pyruvate kinase (PK) deficiency who was initially diagnosed to have Hb H disease, like her sister. The patient had a history of neonatal jaundice which required blood exchange transfusion twice and phototherapy. She became anemic and regular blood transfusion was required since the age of 2 1/2 months. She was very anemic compared to her sister and was transfusion dependent. Besides, she never had red cell inclusion bodies, thus re-evaluation was performed. The diagnosis of red cell pyruvate kinase deficiency and the exclusion of Hb H disease was achieved after cessation of blood transfusion for 3 months. The family study also confirmed the diagnosis. The patient is now on high transfusion and iron chelation. She is doing well with mild splenomegaly.
在泰国，慢性溶血性贫血最常见的病因是地中海贫血血红蛋白病。我们在此报告一名10岁患丙酮酸激酶（PK）缺乏症的女孩，她最初被诊断为与她姐姐一样患有Hb H病。该患者有新生儿黄疸病史，需要进行两次换血输血及光疗。她在2个半月大时开始贫血，此后需要定期输血。与她姐姐相比，她贫血严重，依赖输血。此外，她从未出现过红细胞包涵体，因此进行了重新评估。在停止输血3个月后确诊为红细胞丙酮酸激酶缺乏症并排除了Hb H病。家族研究也证实了这一诊断。该患者目前接受大量输血和铁螯合治疗。她情况良好，有轻度脾肿大。
