Zanella A, Colombo M B, Miniero R, Perroni L, Meloni T, Sirchia G
Centro Transfusionale e di Immunologia dei Trapianti, Ospedale Maggiore Policlinico, Milano, Italy.
Br J Haematol. 1988 Jul;69(3):399-404. doi: 10.1111/j.1365-2141.1988.tb02380.x.
Eleven new cases of red cell pyruvate kinase (PK) deficiency with congenital haemolytic disease from 10 unrelated Italian families were characterized using the methods recommended by the International Committee for Standardization in Haematology (ICSH). All patients were double heterozygotes for the PK gene. The 10 variants were designated PK 'Lecce,' 'Parma,' 'Verona,' 'Milano,' 'Soresina,' 'Macerata,' 'Sassari,' 'Genova,' 'Mantova' and 'Brescia.' PK 'Sassari' was associated with glucose-6-phosphate dehydrogenase deficiency in two siblings. All mutants displayed multiple biochemical abnormalities except for PK 'Lecce' that only showed decreased red cell PK activity. No relation was found between the severity of anaemia and either the residual PK activity or specific biochemical enzyme abnormalities. Increased serum ferritin levels were detected in most of the patients, suggesting the need for systematically monitoring iron status in this disease.
采用国际血液学标准化委员会（ICSH）推荐的方法，对来自10个不相关意大利家庭的11例患有先天性溶血性疾病的红细胞丙酮酸激酶（PK）缺乏症新病例进行了特征分析。所有患者均为PK基因的双重杂合子。这10种变体分别被命名为PK“莱切”、“帕尔马”、“维罗纳”、“米兰”、“索雷西纳”、“马切拉塔”、“萨萨里”、“热那亚”、“曼托瓦”和“布雷西亚”。PK“萨萨里”在两名兄弟姐妹中与葡萄糖-6-磷酸脱氢酶缺乏症相关。除了仅表现出红细胞PK活性降低的PK“莱切”外，所有突变体均表现出多种生化异常。未发现贫血严重程度与残余PK活性或特定生化酶异常之间存在关联。大多数患者检测到血清铁蛋白水平升高，提示在这种疾病中需要系统地监测铁状态。
