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Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...

Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...

Hemoglobin

Hemoglobin

Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
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Bone Marrow Sampling and Transplants

Bone Marrow Sampling and Transplants

Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
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Multiple Allele Traits

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iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.

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Related Experiment Video

Updated: Jun 6, 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

Hemoglobin gene therapy for β-thalassemia.

¹Columbia University, New York, NY, USA. ab13@columbia.edu

Hematology/Oncology Clinics of North America

|November 16, 2010

Summary

Gene therapy offers a potential cure for severe blood disorders like beta-thalassemia. A recent case study shows lentiviral gene therapy led to sustained clinical benefit, reducing the need for transfusions.

Area of Science:

Hematology
Gene Therapy
Molecular Biology

Background:

Allogeneic stem cell transplantation is the only current cure for severe beta-thalassemia and sickle cell disease.
Gene therapy presents a promising alternative for curative treatment.

Purpose of the Study:

To evaluate the clinical benefit of human beta-globin gene therapy in a patient with severe beta-thalassemia.
To investigate the mechanism of gene correction and expression following lentiviral gene therapy.

Main Methods:

Autotransplantation of lentiviral transduced human hematopoietic stem cells.
Monitoring of clinical outcomes, including transfusion requirements.
Analysis of gene integration and expression, identifying the expanded clone and transgene insertion site.

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CRISPR/Cas9 Gene Editing of Hematopoietic Stem and Progenitor Cells for Gene Therapy Applications

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

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Main Results:

The patient experienced significant clinical benefit, remaining transfusion-independent for nearly two years.
Sustained expression of the human beta-globin transgene was observed.
Expansion of a single hematopoietic stem cell clone was identified as the primary driver, with the transgene integrated into the Hmga2 gene.

Conclusions:

Lentiviral human beta-globin gene therapy is a viable alternative curative approach for severe beta-thalassemia.
Transgene integration into the Hmga2 gene can lead to successful clonal expansion and sustained therapeutic effect.