Clinical and Laboratory Standards Institute guideline NBS08—Newborn Screening for Hemoglobinopathies describes the newborn screening (NBS) processes for testing dried blood spot specimens to detect hemoglobinopathies and thalassemias not usually evident at birth. Hemoglobinopathies and thalassemias are clinically significant congenital red blood cell disorders caused by structural or other hemoglobin abnormalities, resulting in various clinical manifestations. Early detection is critical, because without treatment, these conditions lead to increased morbidity and mortality. This guideline discusses various NBS approaches, including equipment considerations, laboratory screening methodologies, short-term and long-term follow-up processes, and future screening possibilities.

This guideline focuses on the NBS laboratory analytical processes for detecting SCD and other clinically significant hemoglobin disorders, including basic information about the biological and clinical features of clinically significant hemoglobinopathies detectable through NBS. It also provides information on preanalytical considerations affecting laboratory detection of hemoglobinopathies in NBS, including dried blood spot (DBS) specimen stability considerations. Various NBS procedures for hemoglobinopathy detection are discussed, with details of the methods included in the appendixes following a general template to allow easier comparisons between the different screening technologies. Terminology and reporting recommendations are included, along with other postanalytical NBS activities, including both short-term follow-up (STFU) activities (tracking and confirmatory testing) and long-term follow-up (LTFU) activities (outcome indicators, registries, care coordination, and access to services). 

The guideline’s overall purpose is to provide sufficient information for worldwide quality NBS process implementation, evaluation, and harmonization. This guideline may also inform policymaking for ensuring quality NBS results. Intended users of this guideline include: 
• NBS laboratory and associated follow-up personnel 
• Hospital personnel managing newborn DBS specimen collection activities, including: 
– Newborn DBS specimen collection supplies management 
– Newborn DBS specimen collection and transmittal process 
– NBS patient follow-up 
– NBS recordkeeping 
• Medical personnel advising NBS programs and caring for affected newborns 
• Manufacturers of laboratory kits and other products intended to be a part of the hemoglobinopathy NBS process 

This guideline is not intended to provide: 
• Details of confirmatory diagnostic laboratory testing processes 
• Information about inappropriate NBS methods, such as solubility testing 
• Models or recommendations for parent or provider education or for genetic counseling