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Related Concept Videos

Rh Blood Group01:19

Rh Blood Group

The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
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Hemoglobin01:24

Hemoglobin

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Related Experiment Video

Updated: May 29, 2026

A Rapid and Chemical-free Hemoglobin Assay with Photothermal Angular Light Scattering
05:18

A Rapid and Chemical-free Hemoglobin Assay with Photothermal Angular Light Scattering

Published on: December 7, 2016

Newborn screening for hemoglobin disorders.

Carolyn C Hoppe1

  • 1Department of Hematology-Oncology, Children's Hospital & Research Center Oakland, Oakland, California 94609, USA. choppe@mail.cho.org

Hemoglobin
|September 14, 2011
PubMed
Summary
This summary is machine-generated.

Newborn screening for hemoglobin disorders is crucial due to rising immigration. California

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Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

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Last Updated: May 29, 2026

A Rapid and Chemical-free Hemoglobin Assay with Photothermal Angular Light Scattering
05:18

A Rapid and Chemical-free Hemoglobin Assay with Photothermal Angular Light Scattering

Published on: December 7, 2016

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Area of Science:

  • Medical Genetics
  • Public Health
  • Hematology

Background:

  • Hemoglobinopathies are increasingly significant in the US due to demographic shifts.
  • Asian immigration has led to a rise in specific hemoglobin disorders like Hb H and Hb E-β-thalassemia.
  • Newborn screening (NBS) is vital for early detection and care of hemoglobinopathies.

Purpose of the Study:

  • To evaluate the role of newborn screening and confirmatory testing for hemoglobinopathies in California.
  • To highlight the importance of a centralized reference laboratory for accurate diagnosis.
  • To assess the impact of advanced diagnostic methods on NBS outcomes.

Main Methods:

  • Utilized electrophoresis, HPLC, and DNA-based methods for confirmatory testing.
  • Analyzed over 1,000 samples annually for sickle cell disease, β-thalassemia, and Hb H disease.
  • Integrated rapid genotyping assays with traditional methods for ambiguous cases.

Main Results:

  • Confirmatory testing modified results for 5% of newborns with presumptive hemoglobinopathies.
  • Advanced methods improved diagnosis of thalassemias and sickling disorders in newborns.
  • The Hemoglobinopathy Reference Laboratory plays a key role in accurate NBS results.

Conclusions:

  • California's NBS program effectively identifies newborns with clinically significant hemoglobin disorders.
  • Centralized diagnostic testing and coordinated follow-up are essential for successful NBS programs.
  • Genotyping assays enhance the accuracy and efficiency of hemoglobinopathy screening.