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 794 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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Kidney Function in Patients With Different Variants of Beta-Thalassemia.
 

Author(s): Azar Nickavar, Azadeh Qmarsi, Shahla Ansari, Elham Zarei

Journal: Iran J Kidney Dis. 2017 Mar;11(2):132-137.

 

Renal involvement is a rare complication of β-thalassemia. Both tubular and glomerular dysfunction might occur in these patients. The aim of this study was to evaluate and compare kidney function in the major, intermedia, and minor variants of β-thalassemia.

Last Updated: 8 Mar 2017

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Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays.
 

Author(s): Giulia Breveglieri, Anna Travan, Elisabetta D'Aversa, Lucia Carmela Cosenza, Patrizia Pellegatti, Giovanni Guerra, Roberto Gambari, Monica Borgatti

Journal:

 

The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+IVSI-110, β+IVSI-6 and ...

Last Updated: 24 Feb 2017

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

2017 Clinical trials update in new treatments of β-thalassemia.
 

Author(s): Alexandros Makis, Eleftheria Hatzimichael, Ioannis Papassotiriou, Ersi Voskaridou

Journal: Am. J. Hematol.. 2016 Nov;91(11):1135-1145.

 

The underlying basis of β-thalassemia pathology is the diminished β-globin synthesis leading to α-globin accumulation and premature apoptotic destruction of erythroblasts, causing oxidative stress-induced ineffective erythropoiesis, bone marrow hyperplasia, splenomegaly, and increased ...

Last Updated: 9 Aug 2016

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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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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: 5 Jun 2017

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Gene Therapy for Beta-Thalassemia Major Using Autologous Hematopoietic Stem Cell Genetically Modified
 

Status: Not yet recruiting

Condition Summary: Beta Thalassemia Major

 

Last Updated: 6 Sep 2017

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