The Red Blood Cell Lab at CHORI combines the efforts of the Hemoglobinopathy Laboratory and the Red Cell Laboratory to serve as a resource to aid in the diagnosis of clinically relevant hemoglobinopathies, red cell abnormalities and provide support for translational studies aimed to improve the quality of life of patients with hemoglobinopathies, including sickle cell disease and thalassemia.
The laboratories offer both clinical diagnostics and research laboratory assays.
The Hemoglobinopathy Reference Laboratory at Children’s Hospital & Center Oakland (CHRCO) 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 CHRCO, 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. Using electrophoretic, HPLC and DNA based methods, the laboratory performs confirmatory testing for sickling disorders, beta thalassemia and HbH disease on over 1,000 samples each year (newborns, parents, and siblings) for this program alone. 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 Hemoglobinopathy Laboratory has worked closely with scientists at Roche Molecular Diagnostics, Inc. (Pleasanton), to develop and validate the multiplex sequence-specific oligonucleotide probe (SSOP) linear array assay used by the laboratory to detect more than 95% of the most common beta-thalassemia mutations worldwide. The laboratory has also developed and validated an alpha thalassemia multiplex gap-PCR assay and a Multiplex Ligation-dependent Probe Amplification (MPLA) assay to identify deletional mutations. Direct DNA sequencing, using an ABI 3100 DNA sequencer, is performed to identify all other hemoglobin mutations.
The Red Cell Research Laboratory at Children’s Hospital Research Institute serves as a resource to aid in the diagnosis of clinically relevant red cell disorders, and supports translational studies aimed to improve the quality of life of patients with hemoglobinopathies, including sickle cell disease and thalassemia.
The laboratory is an integral part of the Center of Excellence for Sickle cell desease and Thalassemia and builds it expertise on over 20 years of basic studies in red cell biology, membrane biology and blood analysis.
The laboratory is equipped to measure red cell characteristics, including red cell deformability, oxygen affinity as well as blood analysis using Advia Technology, flowcytometry and a battery of analytical measurements of different blood components. Unique instrumentation is used to perform diagnostic testing for red cell abnormalities such as hereditary spherocyotsis, eliptocytosis and ovalocytosis, on samples referred from around the world.
In addition, the Red Cell Research Laboratory serves as a national resource to assist translational programs across the country and serves as a core laboratory for NIH supported multicenter trials. In addition to laboratory analysis, the laboratory provides support for design and execution of studies involving sample collection, shipment and storage, as well as the design of database support for sample analysis and sample storage.