CLSI NBS08

Newborn Screening for Hemoglobinopathies, 1st Edition

This guideline describes the recommended protocols for detecting hemoglobinopathies and thalassemias by population-based newborn screening using dried blood spot specimens. Early, presymptomatic detection to identify newborns with abnormal hemoglobins is critical because it improves treatment effectiveness.

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Chairholder: Bradford L. Therrell, Jr., MS, PhD

Date of Publication: October 28, 2019

Order Code PDF: CLSI NBS08Ed1E
ISBN Number: 978-1-68440-060-7

Order Code Print: CLSI NBS08Ed1
ISBN Number: 978-1-68440-059-1

Edition: First

Pages: 120

CLSI NBS08 Additional Details

A guideline for global application developed through the Clinical and Laboratory Standards Institute consensus process.

CLSI NBS08 Abstract

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.