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.

http://www.jewishgenetics.org

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

View Details

 

General Support Organizations

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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 578 free, full-text research articles on human participants. First 3 results:

Quality of life among Iranian patients with beta-thalassemia major using the SF-36 questionnaire.
 

Author(s): Sezaneh Haghpanah, Shiva Nasirabadi, Fariborz Ghaffarpasand, Rahmatollah Karami, Mojtaba Mahmoodi, Shirin Parand, Mehran Karimi

Journal: Sao Paulo Med J. 2013 ;131(3):166-72.

 

CONTEXT AND OBJECTIVE Patients with beta-thalassemia major (β-TM) experience physical, psychological and social problems that lead to decreased quality of life (QoL). The aim here was to measure health-related QoL and its determinants among patients with β-TM, using the Short Form-36 ...

Last Updated: 1 Aug 2013

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Ambulatory blood pressure monitoring for children with β-thalassemia major: a preliminary report.
 

Author(s): Morteza Tabatabaie, Nakysa Hooman, Khadijeh Arjmandi-Rafsanjani, Roya Isa-Tafreshi

Journal: Iran J Kidney Dis. 2013 Jul;7(4):299-303.

 

Heart disease is one of the most common reasons of death in beta-thalassemia major. A few studies have been done in children about blood pressure changes. The aim of this study was to assess hemodynamic changes by ambulatory blood pressure monitoring (ABPM).

Last Updated: 24 Jul 2013

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A synthetic model of human beta-thalassemia erythropoiesis using CD34+ cells from healthy adult donors.
 

Author(s): Y Terry Lee, Ki Soon Kim, Colleen Byrnes, Jaira F de Vasconcellos, Seung-Jae Noh, Antoinette Rabel, Emily R Meier, Jeffery L Miller

Journal:

 

Based upon the lack of clinical samples available for research in many laboratories worldwide, a significant gap exists between basic and clinical studies of beta-thalassemia major. To bridge this gap, we developed an artificially engineered model for human beta thalassemia by knocking ...

Last Updated: 17 Jul 2013

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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 20 free, full-text review articles on human participants. First 3 results:

Ineffective erythropoiesis in β -thalassemia.
 

Author(s): Jean-Antoine Ribeil, Jean-Benoit Arlet, Michael Dussiot, Ivan Cruz Moura, Geneviève Courtois, Olivier Hermine

Journal:

 

In humans, β -thalassemia dyserythropoiesis is characterized by expansion of early erythroid precursors and erythroid progenitors and then ineffective erythropoiesis. This ineffective erythropoiesis is defined as a suboptimal production of mature erythrocytes originating from a proliferating ...

Last Updated: 22 Apr 2013

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Cross-talk between available guidelines for the management of patients with beta-thalassemia major.
 

Author(s): Khaled M Musallam, Michael Angastiniotis, Androulla Eleftheriou, John B Porter

Journal: Acta Haematol.. 2013 ;130(2):64-73.

 

Efforts to optimize the management of patients with β-thalassemia major (TM) continue to expand. Evidence from biomedical research evaluating safe and careful processing measures of blood products, the efficacy and safety of oral iron chelators, and noninvasive techniques for the ...

Last Updated: 30 Aug 2013

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Clinical experience with fetal hemoglobin induction therapy in patients with β-thalassemia.
 

Author(s): Khaled M Musallam, Ali T Taher, Maria Domenica Cappellini, Vijay G Sankaran

Journal: Blood. 2013 Mar;121(12):2199-212; quiz 2372.

 

Recent molecular studies of fetal hemoglobin (HbF) regulation have reinvigorated the field and shown promise for the development of clinical HbF inducers to be used in patients with β-thalassemia and sickle cell disease. However, while numerous promising inducers of HbF have been ...

Last Updated: 22 Mar 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Beta-thalassemia and Microparticles
 

Status: Recruiting

Condition Summary: Thalassemia Major (TM); Thalassemia Intermedia (TI); Microparticles (MP)Originating From Platelets, Endothelial Cells and Monocytes

 

Last Updated: 26 Jan 2011

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Study to Determine the Safety and Tolerability of Sotatercept (ACE-011) in Adults With Beta( β)- Thalassemia.
 

Status: Recruiting

Condition Summary: Beta Thalassemia Major; Beta Thalassemia Intermedia

 

Last Updated: 11 Dec 2013

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Genetic Factors Affecting the Severity of Beta Thalassemia
 

Status: Recruiting

Condition Summary: Beta Thalassemia

 

Last Updated: 22 Jun 2011

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