| 摘要: |
| ［摘要］ 血红蛋白H（HbH）病患者是我国地中海贫血（简称地贫）患者中人数最多的群体，是地贫高发区遗传咨询工作中最难处理的类型，也是临床医师制定输血治疗方案时难以应对的类型。HbH病的临床表现差异很大，随着年龄的增大，多数患者会出现各种并发症，生活质量差，是否要做产前诊断和终止妊娠需做好知情告知，而发挥植入前遗传学诊断（PGD）技术的作用有重要意义。随着年龄的增大，患者出现各种并发症时常常需要相关的多学科联合诊治，并指导患者每年进行1～2次的常规健康体检，及时处理新出现的并发症。给患者制定的输血治疗方案既要关注当前的重点问题，也要关注生长发育和生存质量等问题，在制定输血治疗方案时应综合考虑患者自身因素、疾病因素和患者或家长的意愿。 |
| 关键词: 地中海贫血 血红蛋白H病 产前诊断 临床特征 临床治疗 |
| DOI：10.3969/j.issn.1674-3806.2020.10.03 |
| 分类号:R 556.6+1 |
| 基金项目:国家自然科学基金资助项目（编号：31871265） |
|
| Attaching importance to the prevention and treatment of hemoglobin H disease |
|
WANG Li, ZENG Li-hong, ZHANG Xin-hua
|
|
Department of Pediatrics, the 923rd Hospital of the Joint Logistics Support Force of Chinese People′s Liberation Army, Nanning 530021, China
|
| Abstract: |
| ［Abstract］ Patients with hemoglobin H(HbH) disease are the largest group of thalassemia patients in China. HbH disease is the most difficult type to deal with in genetic counseling in high-incidence areas of thalassemia patients, and also the type that is difficult for clinicians to deal with when making blood transfusion treatment plans. The clinical manifestations of HbH disease varied widely among HbH disease patients. Most HbH disease patients have various complications and poor quality of life with the increase of age. Whether it is necessary to make prenatal diagnosis and termination of pregnancy, it is necessary to inform the patients well, and it is of great significance to play the role of preimplantation genetic diagnosis(PGD) technology. Various complications arising with the increase of age often need related multidisciplinary joint diagnosis and treatment, and the patients should be instructed to take routine physical examination once or twice a year to deal with new complications in time. The blood transfusion treatment plan for the patients should be focused not only on the current key issues, but also on growth, development and quality of life. The patients′ own factors, disease factors and the wishes of the patients or their parents should be taken into consideration when making the treatment plan of blood transfusion. |
| Key words: Thalassemia Hemoglobin H(HbH) disease Prenatal diagnosis Clinical feature Clinical therapy |
