目的 探讨遗传性球形红细胞增多症(HS)合并葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的临床表现、发病机 制和诊断经验。 方法 回顾分析1例5岁HS合并G6PD缺乏症患儿的临床表现、实验室检查,并复习国内外相关文献。 结果 患儿,男, 5岁。因面色苍白伴黄疸,疑似地中海贫血就诊。红细胞计数2.65×1012/L,血红蛋白70.50g/L,平均红 细胞体积78.61 fl,平均球形红细胞体积66.26 fl,网织红细胞18%;镜检红细胞大小不等,以小细胞为主,球形红细胞约 占15%;G6PD活性1.38 NBT;SDS-PAGE电泳和Western-blot均显示患儿带3蛋白部分缺失;基因结果显示,带3蛋白 SLC4A1基因,一个位于4号外显子点突变c.113A > C,另一个位于6号内含子c.349+27C > T(IVS6nt+27C > T),确 诊HS合并G6PD缺乏症。 讨论 临床上同时患有HS和G6PD缺乏症十分罕见,双重红细胞缺陷影响溶血诊断。
Objective To discuss the clinical features, pathogenesis and diagnostic experience of hereditary spherocytosis (HS) accompanied with glucose-6-phosphate dehydrgenase deficiency (G6PD) deficiency. Methods Clinical features and diagnose of a 5-year-old case with HS accompanied with G6PD deficiency were analyzed, and realated literatures reviewed. Results The case was a 5-year-old boy referred to a hospital because of pallor and jaundice. Laboratory test results were as follows: red blood cell count 2.65×1012/ L, hemoglobin 70.50 g/L, mean corpuscular volume 78.61 fl, and mean sphered corpuscular volume 66.26 fl, reticulocyte ratio 18%; G6PD activity was 1.38 NBT. The peripheral red blood cells were of different sizes and mature, and spherocytes were observed. SDS-polyacrylamide gel electrophoresis and western blot shows the band 3 was partially deletion. Molecular analysis revealed the band 3 deficiency was caused by two mutations: one was a missensemutation c.113A >?C, and the other was a intron mutation c.349+27C >?T. A diagnosis of HS accompanied with G6PD deficiency was therefore arrived. Conclusions HS accompanied with G6PD deficiency is a relatively uncommon phenomenon and might lead to misdiagnosis. Blood smear staining, thalassemia screening, mean sphered corpuscular volume and other laboratory detections could improve the accuracy of diagnosis.