CORE--Patient Services Core

患者服务核心为我们的患者，他们的家人，社区成员，医生和其他卫生专业人员提供最先进的教育，咨询和诊断服务，因为与波士顿综合镰状细胞中心相关的医生科学家和专职卫生专业人员的核心。通过我们的外展计划，我们使波士顿综合镰状细胞中心的服务提供给社区成员不接受初级保健在我们的主要教学医院。向有镰状细胞病和相关疾病风险的患者和家庭提供专业咨询。我们向卫生专业人员提供有关镰状细胞病和相关疾病的教育。还向有可能患镰状细胞病和相关疾病的病人和家庭提供教育。我们 还建立了血红蛋白诊断实验室，利用创新技术进行血红蛋白病筛查，并通过质谱法进行血红蛋白的确诊。用于血红蛋白病检测的HPLC的主要局限性存在于镰状血红蛋白病研究期间，其中当使用Bio Rad变体II方法时，HbA 2和HbS加合物之间存在临床上重要的干扰。毛细管区带电泳是等电聚焦的一种替代方法，由于其简单、上级分辨率、线性、精密度、再现性、分析速度以及 自动化操作。采用毛细管区带电泳法测定HbA 2不受HbS的影响，可将HbA 1c与氨甲酰化HbA 1a、A1 b、A1 d、F、C和O-Arab分离。我们将探索和发展毛细管区带电泳法用于常规血红蛋白病和地中海贫血的检测。

The Patient Service Core brings to our patients, their families, community members, physicians and other health professionals, state-of-the-art educational, counseling, and diagnostic services made available because of the core of physician-scientists and allied health professionals associated with the Boston Comprehensive Sickle Cell Center. Through our outreach programs, we make services of the Boston Comprehensive Sickle Cell Center available to community members not receiving primary care at our major teaching hospitals. Professional counseling is provided to patients and families at risk for sickle cell disease and related disorders. We provide education to health professionals about sickle cell disease and related disorders. Education is also provided to patients and families at risk for sickle cell disease and related disorders. We also have established a hemoglobin diagnosis laboratoryproviding hemoglobinopathy screening using innovative technology and definitive hemoglobin diagnosis by mass spectrometry. A major limitation of HPLC for hemoglobinopathy detection is present during the study of sickle hemoglobinopathies where a clinically important interference exists between HbA2 and an adduct of HbS when using the Bio Rad Variant II method. Capillary zone electrophoresis, an alternative to isoelectric focusing, has found many uses in the research laboratory due to its simplicity, superior resolution, linearity, precision, reproducibility, speed of analysis, and automated operation. Using capillary zone electrophoresis the quantitation of HbA2 is not affected by the presence of HbS and capillary zone electrophoresis can resolve HbA1c from carbamylated HbA1a, A1b, A1d, F, C, and O-Arab. We will explore and develop the use of capillary zone electrophoresis for routine hemoglobinopathy and thalassemia detection.