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Related Experiment Video

Updated: May 13, 2026

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies

Published on: September 6, 2017

Molecular diagnostics for haemoglobinopathies.

John Old¹, Shirley Henderson

¹Churchill Hospital, Molecular Haematology, National Haemoglobinopathy Reference Laboratory, Oxford OX3 7LJ, UK +44 1865 857092 ; +44 1865 87095 ; john.old@orh.nhs.uk.

Expert Opinion on Medical Diagnostics

|March 16, 2013

Summary

This review covers current and emerging methods for detecting over 1300 haemoglobinopathy mutations. Advanced techniques show promise for non-invasive prenatal diagnosis of beta thalassaemia and sickle cell disease.

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

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Last Updated: May 13, 2026

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies

Published on: September 6, 2017

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

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

Published on: December 7, 2016

Area of Science:

Genetics
Molecular Biology
Medical Diagnostics

Background:

Globin gene mutations have been a model for mutation detection techniques for over 30 years.
Numerous PCR-based methods exist for the molecular diagnosis of haemoglobinopathies.

Purpose of the Study:

To review commonly used and novel methods for detecting thalassaemia mutations and abnormal haemoglobins.
To outline diagnostic strategies for prenatal diagnosis and discuss non-invasive prenatal diagnosis using cell-free DNA.

Main Methods:

Review of current literature on mutation detection techniques.
Analysis of diagnostic strategies for prenatal and non-invasive prenatal diagnosis.

Main Results:

Identifies optimal techniques for carrier detection and prenatal diagnosis of haemoglobinopathies.
Highlights the application of advanced technologies in non-invasive prenatal diagnosis for beta thalassaemia and sickle cell disease.

Conclusions:

Haemoglobinopathies are genetically diverse, with over 1300 mutations.
Despite advanced methods, simple in-house techniques persist for screening and diagnosis.
Advanced technologies are crucial for future non-invasive prenatal diagnosis of haemoglobinopathies.