CORE--DIAGNOSTIC LABORATORY

UAB综合镰刀细胞中心的目标是开发新的 治疗并最终治愈镰状细胞疾病的策略。UAB‘s 综合镰刀细胞中心红细胞诊断与参考 实验室将发挥重要作用，提供全面的 诊断红细胞异常并为 UAB CSCC申请中概述的基础和临床研究。 UAB CSCC血红蛋白诊断实验室提供最先进的 构成镰状细胞谱的各种基因类型的诊断 疾病。UAB CSCC实验室是阿拉巴马州的参考实验室 针对镰状细胞病的新生儿筛查计划。该实验室还 为阿拉巴马州的患者提供进一步的测试和诊断 公共卫生、妇产和计划生育诊所。类似的服务有 提供给向私人医生、诊所和 全州的实验室。诊断实验室还会收到 来自东南部其他州和美国其他地区的样本 确定镰状细胞病变种的国家，其他 血红蛋白病和其他先天性血细胞疾病。这些是 实验室的作用：(1)提供最新的诊断服务 所有诊所；(2)分析转基因动物的血液并进行 UAB基础和临床项目所需的分析检测 CSCC；(3)培训血液学研究员和住院医生临床病理学 血红蛋白病的诊断和对其的解释 实验室数据；及(4)继续作为 国家新生儿血红蛋白病实验室。 到目前为止，实验室活动已经产生了74份原创出版物 (完整清单载于申请表内)由 实验室的专业人员。这导致了对Hew的定义 疾病状态、新的遗传变异和临床上重要的相互作用 多种基因变异的血红蛋白。

The goal of the UAB Comprehensive Sickle Cell Center is to develop new strategies to treat, and, ultimately, cure sickle cell disease. UAB's Comprehensive Sickle Cell Center Red Cell Diagnostic and Reference Laboratory will play an important role in providing the comprehensive diagnosis of red blood cell abnormalities and in providing a support for the basic and clinical studies outlined in this UAB CSCC application. The UAB CSCC Hemoglobin Diagnostic Laboratory provides state-of-the-art diagnosis of various genotypes constituting the spectrum of sickle cell disease. The UAB CSCC laboratory is the reference lab for the Alabama Neonatal Screening Program for Sickle Cell Disease. The laboratory also provides further testing and diagnosis for patients attending the Alabama Public Health Maternity and Family Planning Clinics. Similar services are provided to patients presenting to private physicians, clinics and laboratories throughout the state. The Diagnostic lab also receives samples from other states in the Southeast and other regions of the country for the determination of variants of sickle cell disease, other hemoglobinopathies and other congenital blood cell disorders. These are the roles of the laboratory: (1) provide up-to-date diagnostic service for all clinics; (2) analyze the blood of transgenic animals and perform analytical assays as needed by the Basic and Clinical Projects of UAB CSCC; (3) train hematology fellows and residents in Clinical Pathology in the diagnosis of hemoglobinopathies and in the interpretation of laboratory data; and (4) continue to serve as a reference lab for the State Neonatal Hemoglobinopathy Laboratory. To date, the laboratory activity has resulted in 74 original publications (the complete list in enclosed in the application) authored by the professional personnel of the lab. This has resulted in defining hew disease states, new genetic variants and clinically important interactions of multiple genetic variants of hemoglobin.