DIAGNOSIS AND COUNSELING FOR HEMOGLOBIN ABNORMALITIES

血红蛋白异常的诊断和咨询

• 批准号: 3758608
• 负责人: SAMIR BALLAS
• 金额: --
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3758608
• 关键词: African American; Asian Americans; Hispanic Americans; blood disorder diagnosis; disease /disorder proneness /risk; disease carrier state; early diagnosis; genetic counseling; health education; hemoglobin Ss; hemoglobinopathy; human pregnant subject; human subject; newborn human (0-6 weeks); prenatal diagnosis; sickle cell anemia; spouses

This project is a modified continuation of the newborn screening study which was previously funded. Specific approaches of the current project include: 1. Identification, testing, counseling, and education of pregnant women who are at risk to be carriers of Hb S gene or other abnormal hemoglobins. Pregnant women at risk (Black, Hispanics, Asians,....) will be identified in our prenatal clinic and tested for the presence of hemoglobinopathies. Those that are carriers of Hb S gene or other abnormal hemoglobins will be followed in our Center for counseling and education. The spouses of these patients will also be tested and further counseling and education will ensue including the initiation of the process of prenatal diagnosis. 2. Counseling, education, and possible prenatal diagnosis of patients with sickle cell anemia who became pregnant. The spouses of these patients will also be tested as was mentioned above. 3. Confirmatory testing of newborns at our institution who are found to be at risk to have hemoglobinopathies by the State Newborn Screening Project.

该项目是新生儿筛查研究的修改延续 这是以前资助的。 当前项目的具体方法 包括以下步骤： 1.对孕妇的识别、检测、咨询和教育 存在Hb S基因携带者或其他异常者 血红蛋白 高危孕妇（黑人、西班牙裔、亚裔...）将 在我们的产前诊所进行鉴定， 血红蛋白病 Hb S基因携带者或其他 异常血红蛋白将在我们的咨询中心进行随访， 教育 这些患者的配偶也将接受检测， 咨询和教育将随之而来，包括启动 产前诊断的过程。 2.咨询、教育和可能的产前诊断 患有镰状细胞性贫血的孕妇 这些人的配偶 也将如上所述对患者进行测试。 3.在我们机构对新生儿进行的检验， 在国家新生儿筛查中有血红蛋白病的风险 项目