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Updated: May 29, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Thalassaemia.

Douglas R Higgs¹, James Douglas Engel, George Stamatoyannopoulos

¹Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK. doug.higgs@imm.ox.ac.uk

Lancet (London, England)

|September 13, 2011

Summary

This summary is machine-generated.

Thalassaemia, a common genetic blood disorder, affects 60,000 newborns annually, primarily in tropical regions. Research focuses on novel therapies like gene therapy to improve adult beta-globin synthesis and reduce reliance on transfusions.

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Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload

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Published on: March 14, 2017

Area of Science:

Genetics
Molecular Biology
Hematology

Background:

Thalassaemia is a prevalent global genetic disorder affecting haemoglobin synthesis.
It disproportionately impacts populations in tropical and subtropical regions.
Current treatments rely on supportive care, including blood transfusions and iron chelation.

Purpose of the Study:

To review recent advances in understanding thalassaemia's molecular and cellular basis.
To explore new therapeutic strategies aimed at increasing fetal gene expression.
To discuss the potential of gene and cell therapies for thalassaemia.

Main Methods:

Review of molecular and cellular mechanisms of globin gene expression.
Analysis of emerging pharmacological agents targeting globin gene regulation.
Evaluation of the first gene therapy trial for thalassaemia.

Main Results:

Significant progress in understanding globin gene regulation in thalassaemia.
Development of targeted pharmacological agents shows promise.
Early gene therapy trials indicate potential for improved treatment outcomes.

Conclusions:

Novel therapeutic avenues, including gene and cell therapies, offer hope beyond traditional supportive care.
Continued research into molecular mechanisms is crucial for developing effective thalassaemia treatments.
International collaboration drives innovation in managing this widespread genetic disease.