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

Hepcidin is suppressed by erythropoiesis in hemoglobin E β-thalassemia and β-thalassemia trait.
 

Author(s): Emma Jones, Sant-Rayn Pasricha, Angela Allen, Patricia Evans, Chris A Fisher, Katherine Wray, Anuja Premawardhena, Dyananda Bandara, Ashok Perera, Craig Webster, Pamela Sturges, Nancy F Olivieri, Timothy St Pierre, Andrew E Armitage, John B Porter, David J Weatherall, Hal Drakesmith

Journal: Blood. 2015 Jan;125(5):873-80.

 

Hemoglobin E (HbE) β-thalassemia is the most common severe thalassemia syndrome across Asia, and millions of people are carriers. Clinical heterogeneity in HbE β-thalassemia is incompletely explained by genotype, and the interaction of phenotypic variation with hepcidin is unknown. ...

Last Updated: 30 Jan 2015

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No evidence of xenotropic murine leukemia virus-related virus infection in Brazilian multiply transfused patients with sickle cell disease and beta-thalassemia major.
 

Author(s): Svetoslav Nanev Slavov, Katia Kaori Otaguiri, Mayra Dorigan Macedo, Maurício Cristiano Rocha-Júnior, Ana Cristina Silva-Pinto, Simone Kashima, Dimas Tadeu Covas

Journal: New Microbiol.. 2014 Oct;37(4):543-50.

 

Although xenotropic murine leukemia virus-related virus (XMRV) has been regarded as a laboratory contaminant, it remains one of the most controversial viruses. The objective of the study was to determine if XMRV is present in 44 patients with beta-thalassemia major, 48 with sickle ...

Last Updated: 12 Nov 2014

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Phenotypic characterization of circulating CD4/CD8 T-lymphocytes in β-thalassemia patients.
 

Author(s): Egarit Noulsri, Surada Lerdwana, Suthat Fucharoen, Kovit Pattanapanyasat

Journal: Asian Pac. J. Allergy Immunol.. 2014 Sep;32(3):261-9.

 

Infection is one of the most common causes of death in β-thalassemia patients. This may be due in part to an underlying immunological abnormality. During the past decade, a subset of CD3+ T cells that express both CD4+CD8+ (DP) T-cells were discovered and have been described in several ...

Last Updated: 1 Oct 2014

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

[Hemoglobin H disease combined with hemoglobin Q-thailand and β-thalassemia: one case report and literature review].
 

Author(s): Jianhong Xie, Guoqing Wang, Qizhi Xiao, Yongliang Zhang, Yuqiu Zhou, Liqing Hu

Journal: Zhonghua Xue Ye Xue Za Zhi. 2014 Sep;35(9):840-1.

 

Last Updated: 23 Sep 2014

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[Advances in pathogenesis and correlated clinical research of hypercoagulability in β thalassemia].
 

Author(s): Rong-Yu Lv, Fei-Qiu Wen, Jie Yu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Jul;16(7):774-8.

 

This article summarizes the pathogenesis of hypercoagulability in β thalassemia patients, including platelet activation, alteration of red blood cell membranes, abnormal expression of adhesion molecules on vascular endothelial cells and iron overload. Clinical evidence, clinical ...

Last Updated: 10 Jul 2014

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β-Thalassemia and Polycythemia vera: targeting chronic stress erythropoiesis.
 

Author(s): Bart J Crielaard, Stefano Rivella

Journal: Int. J. Biochem. Cell Biol.. 2014 Jun;51():89-92.

 

β-Thalassemia and Polycythemia vera are genetic disorders which affect the synthesis of red blood cells, also referred to as erythropoiesis. Although essentially different in clinical presentation - patients with β-thalassemia have an impairment in β-globin synthesis leading to ...

Last Updated: 26 May 2014

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Symptoms, Diagnosis, and Treatment

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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: 9 Jun 2015

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Last Updated: 7 May 2015

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An Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients
 

Status: Not yet recruiting

Condition Summary: Beta Thalassemia Major

 

Last Updated: 13 Jan 2015

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