外周血口形红细胞增多伴巨大血小板患者分子流行病学分析  

Molecular epidemiological analysis of patients with increased stomatocytes and giant platelets in peripheral blood

作　　者：周嘉宽 郭平[1] 蔡祺 杨铭康 黄之玺 薛伊伦 华任翔 林瀚 李佳明[2] 王剑飚[1] ZHOU Jiakuan;GUO Ping;CAI Qi;YANG Mingkang;HUANG Zhixi;XUE Yilun;HUA Renxiang;LIN Han;LI Jiaming;WANG Jianbiao(Department of Clinical Laboratory,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Blood Transfusion,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院检验科,上海200025 [2]上海交通大学医学院附属瑞金医院输血科,上海200025

出　　处：《检验医学》2025年第2期171-177,共7页Laboratory Medicine

基　　金：吴阶平医学基金会临床科研专项(320.6750.2023-3-47)。

摘　　要：目的分析外周血口形红细胞增多伴巨大血小板患者的分子流行病学特征。方法收集2022—2023年上海交通大学医学院附属瑞金医院30例口形红细胞增多伴巨大血小板患者外周血样本,进行全血细胞计数和全外显子基因测序。收集患者临床资料、基本病史和测序结果,综合分析每位患者的基因突变情况,并判断表型形成的原因。结果30例患者中,有26例患者伴血小板减少,22例患者伴不同程度贫血。基因测序结果显示,有8例患者携带植物固醇血症相关基因(ABCG 5、ABCG 8)突变,其中3例ABCG 5纯合突变、1例ABCG 8纯合突变、2例ABCG 8复合杂合突变、2例单纯ABCG 5杂合突变;有5例患者携带遗传性口形红细胞增多症(HST)相关基因(PIEZO 1、ABCB 6)杂合突变;有2例患者携带家族性高胆固醇血症(FH)相关基因(LDLR、LDLRAP 1)突变,其中1例LDLR杂合突变、1例LDLRAP 1纯合突变;有1例患者携带脂质代谢异常相关基因(ABCA 1)杂合突变;有2例患者携带遗传性球形红细胞增多症相关基因(SPTA 1、SPTB)杂合突变,其中1例为SPTA 1和SPTB双重突变;有3例患者携带血小板功能相关基因(RASGRP 2、TUBB 1、MYH 9)复合杂合突变,其中2例RASGRP 2和TUBB 1复合杂合突变;有9例患者基因突变结果与表型不符合。结论遗传性基因突变、继发性因素均可导致口形红细胞增多伴巨大血小板,当患者出现类似细胞形态学改变时,可能指向多种不同疾病方向,应及时进行基因筛查,综合分析可能的病因。Objective To analyze the molecular epidemiology of patients with increased stomatocytes and giant platelets in periheral blood.Methods Peripheral blood samples were collected from 30 patients with increased stomatocytes and giant platelets at Ruijin Hospital,Shanghai Jiao Tong University School of Medicine from 2022 to 2023 for whole blood cell count and whole-exome sequencing.The clinical data,basic medical history and sequencing results were collected,the gene mutations of each patient were comprehensively analyzed,and their causes of phenotypic formations were determined.Results Totally,26 patients were accompanied by thrombocytopenia,and 22 patients were accompanied by various degrees of anemia.The sequencing results showed that 8 patients carried mutations in ABCG5 and ABCG 8 genes,which were related to phytosterolemia,including 3 homozygous mutations in ABCG5,1 homozygous mutation in ABCG8,2 complex heterozygous mutations in ABCG8 and 2 heterozygous mutations in ABCG5.Totally,5 patients carried heterozygous mutations in PIEZO 1 and ABCB 6 genes,which were related to hereditary stomatocytosis(HST).Totally,2 patients carried mutations in LDLR and LDLRAP 1 genes,which were related to familial hypercholesterolemia(FH),including 1 heterozygous mutation in LDLR and 1 homozygous mutation in LDLRAP 1.Totally,1 patient carried heterozygous mutations in ABCA 1 genes,which was related to lipid metabolism.Totally,2 patients carried mutations in SPTA 1 and SPTB genes,which were related to hereditary spherocytosis,and one of them carried mutations in both genes simultaneously.Totally,3 patients carried complex heterozygous mutations in RASGRP 2,TUBB 1 and MYH 9 genes,which were related to platelet function,and 2 patients carried complex heterozygous mutations in RASGRP 2 and TUBB 1,respectively.The other 9 patients carried gene mutations that did not conform to the phenotypes.Conclusions Hereditary gene mutations or secondary factors can lead to stomatocytes with giant platelets.When patients have similar morphological c

关 键 词：口形红细胞 巨大血小板 遗传性疾病 基因突变 全外显子基因测序 

分 类 号：R446.11[医药卫生—诊断学]