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

Modified activin receptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine β-thalassemia.
 

Author(s): Rajasekhar N V S Suragani, Sharon M Cawley, Robert Li, Samantha Wallner, Mark J Alexander, Aaron W Mulivor, Sara Gardenghi, Stefano Rivella, Asya V Grinberg, R Scott Pearsall, Ravindra Kumar

Journal: Blood. 2014 Jun;123(25):3864-72.

 

In β-thalassemia, unequal production of α- and β-globin chains in erythroid precursors causes apoptosis and inhibition of late-stage erythroid differentiation, leading to anemia, ineffective erythropoiesis (IE), and dysregulated iron homeostasis. Here we used a murine model of ...

Last Updated: 20 Jun 2014

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A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in β-thalassemia major (CORDELIA).
 

Author(s): Dudley J Pennell, John B Porter, Antonio Piga, Yongrong Lai, Amal El-Beshlawy, Khawla M Belhoul, Mohsen Elalfy, Akif Yesilipek, Yurdanur Kilinç, Tomasz Lawniczek, Dany Habr, Marianne Weisskopf, Yiyun Zhang, Yesim Aydinok,

Journal: Blood. 2014 Mar;123(10):1447-54.

 

Randomized comparison data on the efficacy and safety of deferasirox for myocardial iron removal in transfusion dependent patients are lacking. CORDELIA was a prospective, randomized comparison of deferasirox (target dose 40 mg/kg per day) vs subcutaneous deferoxamine (50-60 mg/kg ...

Last Updated: 9 Apr 2014

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Study of parents of β-thalassemia major children to determine cutoff values of hematological parameters for diagnosis of β-thalassemia trait and assessment of anemia in them.
 

Author(s): Dipal Bhukhanvala, Vijeta Seliya, Avani Shah, Snehalata Gupte

Journal: Indian J Med Sci. ;67(5-6):117-22.

 

Because of the overlapping MCV, MCH and HbA 2 values in BTT and non-BTT subjects our laboratory determined own cutoffs.

Last Updated: 11 Dec 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 23 free, full-text review articles on human participants. First 3 results:

[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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Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area.
 

Author(s): Mohamad H Qari, Yasser Wali, Muneer H Albagshi, Mohammad Alshahrani, Azzah Alzahrani, Ibrahim A Alhijji, Abdulkareem Almomen, Abdullah Aljefri, Hussain H Al Saeed, Shaker Abdullah, Ahmad Al Rustumani, Khoutir Mahour, Shaker A Mousa

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Thalassemia syndrome has diverse clinical presentations and a global spread that has far exceeded the classical Mediterranean basin where the mutations arose. The mutations that give rise to either alpha or beta thalassemia are numerous, resulting in a wide spectrum of clinical severity ...

Last Updated: 15 Nov 2013

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[High-dose cyclophosphamide for severe aplastic anemia associated with β-thalassemia: a case report and literatures review].
 

Author(s): Xin Zhao, Yuan Li, Kang Zhou, Li Zhang, Li-ping Jing, Lei Ye, Guang-xin Peng, Yang Li, Jian-ping Li, Hui-hui Fan, Lin Song, Feng-kui Zhang

Journal: Zhonghua Xue Ye Xue Za Zhi. 2013 Jun;34(6):532-5.

 

To investigate the clinical features and therapeutic method for severe aplastic anemia (SAA) associated with β-thalassemia, and to improve the recognition of the disease.

Last Updated: 5 Jul 2013

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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

Last Updated: 12 Sep 2012

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Last Updated: 25 Jun 2014

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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: 28 Jun 2014

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