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

Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.
 

Author(s): Cyril Cyrus, Chittibabu Vatte, J Francis Borgio, Abdullah Al-Rubaish, Shahanas Chathoth, Zaki A Nasserullah, Sana Al Jarrash, Ahmed Sulaiman, Hatem Qutub, Hassan Alsaleem, Alhusain J Alzahrani, Martin H Steinberg, Amein K Al Ali

Journal: Biomed Res Int. 2017 ;2017():1972429.

 

Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, ...

Last Updated: 10 Mar 2017

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Could Heterozygous Beta Thalassemia Provide Protection Against Multiple Sclerosis?
 

Author(s): Mehmet Ali Cikrikcioglu, Muhammed Emin Ozcan, Gulistan Halac, Ilhami Gultepe, Kenan Celik, Yahya Sekin, Elif Ece Eser, Sebnem Burhan, Guven Cetin, Omer Uysal

Journal:

 

BACKGROUND Heterozygous beta thalassemia (HBT) has been proposed to increase the risk of developing autoimmune disease. Our aim in this study was to examine the prevalence of HBT among multiple sclerosis (MS) patients. MATERIAL AND METHODS HBT frequency was investigated in our MS ...

Last Updated: 12 Dec 2016

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Associations between a health-promoting lifestyle and quality of life among adults with beta-thalassemia major.
 

Author(s): Aghbabak Maheri, Roya Sadeghi, Davoud Shojaeizadeh, Azar Tol, Mehdi Yaseri, Mojtaba Ebrahimi

Journal:

 

A health-promoting lifestyle (HPL) is a factor that affects the quality of life (QoL) in patients with beta-thalassemia (β-thalassemia). Due to the lack of studies of this issue, this study aimed to determine the association between HPL and QoL among adults with β-thalassemia.

Last Updated: 18 Nov 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:

β-Thalassemia and ocular implications: a systematic review.
 

Author(s): Aliki Liaska, Petros Petrou, Constantinos D Georgakopoulos, Ramza Diamanti, Dimitris Papaconstantinou, Menelaos G Kanakis, Ilias Georgalas

Journal:

 

Beta-thalassemia is a severe genetic blood disorder caused by a mutation in the gene encoding for the beta chains of hemoglobin. Individuals with beta-thalassemia major require regular lifelong Red Blood Cell transfusions to survive. Ocular involvement is quite common and may have ...

Last Updated: 9 Jul 2016

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Current and future alternative therapies for beta-thalassemia major.
 

Author(s): Edouard de Dreuzy, Kanit Bhukhai, Philippe Leboulch, Emmanuel Payen

Journal: Biomed J. 2016 Feb;39(1):24-38.

 

Beta-thalassemia is a group of frequent genetic disorders resulting in the synthesis of little or no β-globin chains. Novel approaches are being developed to correct the resulting α/β-globin chain imbalance, in an effort to move beyond the palliative management of this disease ...

Last Updated: 23 Apr 2016

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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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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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