Beta Thalassemia

Common Name(s)

Beta Thalassemia, Beta-Thalassemia, Thalassemia Major

Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading to anemia and other health problems. Severe beta-thalassemia is called Òthalassemia majorÓ or ÒCooleyÕs anemia.Ó Thalassemia intermedia is the less severe form. Mutations in the HBB gene cause beta-thalassemia. This condition is usually inherited in an autosomal recessive fashion, which means people with beta thalassemia have mutations in both of their HBB genes. People who have only one HBB mutation may have no symptoms or develop mild symptoms; these individuals are said to have thalassemia minor.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Beta Thalassemia" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Beta Thalassemia" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Beta Thalassemia" returned 800 free, full-text research articles on human participants. First 3 results:

Anti-Thyroid Peroxidase Antibodies and Male Gender Are Associated with Diabetes Occurrence in Patients with Beta-Thalassemia Major.
 

Author(s): Giovanni M Pes, Francesco Tolu, Maria P Dore

Journal: J Diabetes Res. 2016 ;2016():1401829.

 

Intensive transfusion schedule and iron-chelating therapy prolonged and improved quality of life in patients with β-thalassemia (β-T) major. However, this led to an increased risk of developing impaired glucose tolerance or diabetes. In this study we analyzed variables associated ...

Last Updated: 28 Apr 2016

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Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children.
 

Author(s): Flor Yus Cebrian, María del Valle Recasens Flores, Silvia Izquierdo Álvarez, Ingrid Parra Salinas, Carmen Rodriguez-Vigil Iturrate

Journal:

 

The simultaneous presence of a heterozygous β-thalassemia with α-gene triplication may cause anything from a thalassemia trait to thalassemia intermedia of mild to moderate severity.

Last Updated: 15 Apr 2016

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Naïve Induced Pluripotent Stem Cells Generated From β-Thalassemia Fibroblasts Allow Efficient Gene Correction With CRISPR/Cas9.
 

Author(s): Yuanyuan Yang, Xiaobai Zhang, Li Yi, Zhenzhen Hou, Jiayu Chen, Xiaochen Kou, Yanhong Zhao, Hong Wang, Xiao-Fang Sun, Cizhong Jiang, Yixuan Wang, Shaorong Gao

Journal: Stem Cells Transl Med. 2016 Jan;5(1):8-19.

 

Conventional primed human embryonic stem cells and induced pluripotent stem cells (iPSCs) exhibit molecular and biological characteristics distinct from pluripotent stem cells in the naïve state. Although naïve pluripotent stem cells show much higher levels of self-renewal ability ...

Last Updated: 8 Jan 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Beta Thalassemia" returned 30 free, full-text review articles on human participants. First 3 results:

Atypical femoral fracture in a beta-thalassemia major patient with previous bisphosphonate use: case report and a review of the literature.
 

Author(s): K Lampropoulou-Adamidou, S Tournis, I K Triantafyllopoulos

Journal: J Musculoskelet Neuronal Interact. 2016 Mar;16(1):75-8.

 

There are numerous studies presenting the beneficial effect of bisphosphonates (BPs) on bone disease of patients suffering from beta-thalassemia major (TM). Although BPs have been widely used, adverse events have been described including atypical femoral fractures (AFF). In the present ...

Last Updated: 5 Mar 2016

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Retinal abnormalities in β-thalassemia major.
 

Author(s): Devang L Bhoiwala, Joshua L Dunaief

Journal: Surv Ophthalmol. ;61(1):33-50.

 

Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelial degeneration, angioid streaks, venous tortuosity, ...

Last Updated: 24 Dec 2015

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α-Globin as a molecular target in the treatment of β-thalassemia.
 

Author(s): Sachith Mettananda, Richard J Gibbons, Douglas R Higgs

Journal: Blood. 2015 Jun;125(24):3694-701.

 

The thalassemias, together with sickle cell anemia and its variants, are the world's most common form of inherited anemia, and in economically undeveloped countries, they still account for tens of thousands of premature deaths every year. In developed countries, treatment of thalassemia ...

Last Updated: 13 Jun 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy for Transfusion Dependent Beta-thalassemia
 

Status: Recruiting

Condition Summary: Beta-Thalassemia

 

Last Updated: 21 Jun 2016

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A Study of EPEG in Beta Thalassemia Patients
 

Status: Not yet recruiting

Condition Summary: Beta-Thalassemia

 

Last Updated: 31 Oct 2016

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