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.
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