血红蛋白H病患者肝脾肿大的表型异质性分析  

Phenotypic Heterogeneity Analysis of Hepatosplenomegaly in Patients with Hemoglobin H

作　　者：杨金芳 秦朗 张波 李瑶芸 黎引丽 何建宏 黄琼芳 王丽 张新华 张登峰 YANG Jinfang;QIN Lang;ZHANG Bo;LI Yaoyun;LI Yinli;HE Jianhong;HUANG Qiongfang;WANG Li;ZHANG Xinhua;ZHANG Dengfeng(NO.923 Hospital of Joint Logistics Support Force of People's Liberation Army,Nanning Guangri 530021,China)

机构地区：[1]联勤保障部队923医院超声医学科,广西南宁530021 [2]联勤保障部队923医院儿科,广西南宁530021 [3]联勤保障部队923医院血液科,广西南宁530021 [4]南方医科大学基础医学院医学遗传学教研室

出　　处：《联勤军事医学》2023年第7期564-566,580,共4页Military Medicine of Joint Logistics

基　　金：国家自然科学基金面上项目(3187090458)。

摘　　要：目的 分析血红蛋白H(hemoglobin H,HbH)病患者常见基因型之间肝脾肿大程度的差异,探讨相关风险因素,为HbH病的临床诊疗和预后评估提供指导。方法 对141例经基因诊断确诊的HbH病患者进行腹部超声影像学检查,观察肝脾肿大程度,记录患者基本信息,并进行统计分析。结果 68例患者同时存在肝脾肿大,缺失型HbH病6例(4.26%,6/141),非缺失型HbH病62例(43.97%,62/141)。HbH病患者年龄与肝脏超声指标肝左叶上下径、前后径、右叶斜径、右叶厚径呈显著正相关(P均<0.01),与脾脏超声指标脾厚、脾肋下、脾长径呈显著正相关(P均<0.01)。男性非缺失型HbH病患者肝脾肿大风险更高。结论 非缺失型HbH病患者的临床表现较缺失型HbH病患者严重,43.97%的非缺失型HbH病患者同时有肝脾肿大,面临着更高的切脾风险。Objective To analyze the differences in the degree of hepatosplenomegaly among common genotypes of patients with hemoglobin H(HbH),and to explore its related risk factors,so as to provide guidance for clinical diagnosis,treatment and prognosis evaluation of HbH.Methods Abdominal ultrasound imaging was performed in 141 patients with HbH diagnosed by genetic diagnosis,the degree of hepatosplenomegaly was observed,and the basic information of the patients was recorded,and statistical analysis was carried out.Results Hepatosplenomegaly was presented in 68 patients,there were 6 cases of deletion HbH disease(4.26%,6/141)and 62 cases of non-deletion HbH disease(43.97%,62/141).The age of HbH patients was positively correlated with liver ultrasound index of left lobe diameter,anterior and posterior diameter,right lobe oblique diameter,right lobe thickness diameter(all P<0.01),and there was significant positive correlation with spleen thickness,spleen subcostal and spleen length diameter(all P<0.01).Male patients with non-deletion HbH had a higher risk of hepatosplenomegaly.Conclusion The clinical manifestations of patients with nondeletion HbH are more serious than those with deletion,43.97%of non-deletion HbH patients also had hepatosplenomegaly and faced a higher risk of splenectomy.

关 键 词：中间型地中海贫血 血红蛋白H病 肝脾肿大 脾切除术 铁过载 

分 类 号：R556.61[医药卫生—血液循环系统疾病]