The Blood Lab at CHORI combines the efforts of the Hemoglobinopathy
laboratory and the Red Cell Laboratory to serve as a resource to 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.
Hemoglobinopathy laboratory
The Hemoglobinopathy Reference Laboratory at Children’s Hospital
Research Institute 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 β-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.
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.
Red Cell Laboratory
The Red Cell 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 of sickle cell
desease and thalassemia and bulds 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 performs confirmatory
testing on red cell abnormalities such as hereditary spherocyotsis,
eliptocytosis and ovalocytosis, received from around the world.
In addition, the Red Cell Laboratory serves as a national resource to assist
translational programs across the country and serves as a corelaboratory for
NIH supported multicenter trials. In addition to laboratory tests, we provide
support for design and execution of sample collection, shipment and storage,
as well as the design of database support for sample analysis and sample
storage.