Hemoglobinopathy Laboratory
REFERENCE CENTER FOR HEMOGLOBIN DISORDERS

Children's Hospital Oakland Hemoglobinopathy Reference Laboratory: Background

The Hemoglobinopathy Reference Laboratory at Children’s Hospital & Research Center Oakland serves as a national resource to aid in the diagnosis of clinically relevant hemoglobinopathies. The laboratory is CLIA and CAP certified and functions as a clinical and diagnostic support laboratory for several programs, including the comprehensive Sickle Cell and Thalassemia centers at Children's, the California State Newborn Screening (NBS) Hemoglobinopathy Follow-up Program, the National Marrow Donor Program and several other cord blood banks, as well as clinical referrals from health care providers.

Since 1973, the Children's Hemoglobinopathy Reference Laboratory has been a vital component of California’s comprehensive newborn screening follow-up program, enabling the delivery of timely health care for infants with sickle cell disease and thalassemia. The laboratory performs confirmatory testing on over 1,000 samples each year (newborns, parents, and siblings) from the CA NBS program. Using electrophoretic, HPLC and DNA-based methods, the laboratory tests for the -globin and α-globin mutations responsible for sickle cell disease, β-thalassemia, and α-thalassemia (HbH disease). Staff hematologists review and report all results, along with a clinical interpretation and recommendations, within two weeks of sample collection. Through this program, thousands of newborns have been screened and families counseled and directed for comprehensive care.

In addition, the Hemoglobinopathy Reference Laboratory serves as a national resource to assist NBS programs across the country in the identification of clinically relevant hemoglobin variants. In a two-year study supported by the Health Resources and Services Administration (HRSA) and the National Newborn Screening and Genetics Resource Council (NNSGRC), the laboratory identified 572 clinically relevant hemoglobinopathies from 1,302 newborn blood spot samples. The laboratory continues to support 33 state NBS programs by working up samples that require additional diagnostic testing.

The Children's Hemoglobinopathy Laboratory serves as the core laboratory for the NHLBI’s Sickle Cell Disease Collaborative Genotype-Phenotype Database and Sample Repository Project. In this capacity, the laboratory is dedicated to the collection, testing, and storage of 2,300 blood and DNA samples so that relevant laboratory and genetic data linked to the CSCC database are available for future genotype-phenotype studies.

In collaboration with Roche Molecular Diagnostics, Inc. (Pleasanton), the Hemoglobinopathy Laboratory helped develop and validate a novel multiplex sequence-specific oligonucleotide probe (SSOP) linear array assay capable of detecting more than 95% of the most common β-thalassemia mutations worldwide. We have also developed a multiplex gap-PCR assay in our laboratory to identify common α-thalassemia deletional mutations. Direct DNA sequencing, using an ABI 3100 DNA sequencer, is performed to identify all other hemoglobin mutations.