CORE--DIAGNOSTIC LABORATORY

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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.