Hemoglobinopathies : current practices for screening, confirmation and follow-up
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Hemoglobinopathies : current practices for screening, confirmation and follow-up

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      In 2013, the National Center on Birth Defects and Developmental Disabilities, Division of Blood Disorders (DBD), Centers for Disease Control and Prevention (CDC) in collaboration with the Association of Public Health Laboratories (APHL) Newborn Screening and Genetics in Public Health Program convened an APHL Hemoglobinopathy Laboratory Workgroup to address issues around hemoglobinopathy laboratory testing. The workgroup objectives are as follows: • Discuss the issues related to building and enhancing US laboratory capacity in the areas of screening and diagnosis of hemoglobinopathies. • Conduct an inventory of state and regional labs that are currently performing (or have the capacity to develop) sickle cell disease laboratory testing. • Develop a training program for implementing laboratory technology in state public health laboratories, universities, and community centers for testing. • Consult with CDC and other partners to evaluate current laboratory methodologies and make recommendations for improvements. • Identify and document best practices that have been used in SCD public health laboratory training; identify training standards and competency outcomes. One of the products of the APHL Hemoglobinopathy Laboratory Workgroup is this guidance document on hemoglobinopathy laboratory testing and follow-up techniques. This document explores current screening and diagnostic methods available that are currently employed by some screening and diagnostic laboratories. It also includes an overview of laboratory structure discussing algorithms for testing, reporting and follow-up from several programs in the US. Furthermore, this document aims to improve and strengthen US and international capabilities by offering best practices thereby contributing to the goal of early detection of hemoglobin disorders. This publication was supported by Cooperative Agreement # U60HM000803 funded by the Centers for Disease Control and Prevention. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC or the Department of Health and Human Services. nbs_hemoglobinopathy-testing_122015.pdf
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