伴SPTB基因p.E1135X突变的遗传性球形红细胞增多症1例并文献复习

Hereditary spherocytosis from a Chinese family with p.E1135X mutation of SPTB gene:a case report and literature review

遗传性球形红细胞增多症(hereditary spherocytosis,HS)是一组高度异质性疾病,由编码红细胞膜和细胞骨架蛋白的某些基因发生突变所致,其中最常见的是血影蛋白(SPTA1和SPTB基因)、锚蛋白(ANK1基因)和带3蛋白(SLC4A1基因)突变。上述突变降低了将红细胞内膜骨架与脂质双层的外层相连接的蛋白质的水平,继而导致红细胞膜微囊泡形成、红细胞逐渐变为球形。球形红细胞易致溶血,机制包括红细胞变形性降低以及脾脏巨噬细胞的吞噬作用,血影蛋白的丢失似乎与溶血的严重程度特别相关[1]。

To improve the knowledge of hereditary spherocytosis(HS)with novel SPTB mutation and facilitate the molecular diagnosis in intractable cases,we reported the diagnosis and treatment process of a patient of HS from a Chinese family with severe jaundice but without anemia,and reviewed related literatures.This patient was a 16-year old male whose prominent manifestation was severe jaundice and pathological features of hepatic puncture was consistent with Gilbert syndrome.Further examinations showed that UGT1 A1 gene mutation was negative.Spherocytes were observed in the peripheral smear with increased incubated osmotic fragility.A novel mutation of SPTB gene,the substitution of c.3403 G>T in exon 15,was identified in the patient and his father.After splenectomy,the patient’s jaundice eased rapidly.This case report suggests that a novel SPTB mutation(NM001024858,c.3403 G>T,Exon15)is potentially associated with HS,and molecular diagnosis is of clinical significance for the accurate identification of atypical HS cases.