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

Diagnosis and treatment of neoplastic post-transplant lymphoproliferative disorder following hematopoietic stem cell transplant in β-thalassemia: A pediatric case report.
 

Author(s): Xiaohong Zhang, Wenge Hao, Tao Xu, Sha Liu, Hua Jiang

Journal: Medicine (Baltimore). 2017 Dec;96(52):e9055.

 

Post-transplant lymphoproliferative disorder (PTLD) is the most common form of lymphoproliferation in childhood and is associated with significant morbidity and mortality. In this report we reviewed the case of a pediatric patient who experienced PTLD after allogeneic hematopoietic ...

Last Updated: 31 Dec 1969

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Investigation of FoxO3 dynamics during erythroblast development in β-thalassemia major.
 

Author(s): Naruchit Thanuthanakhun, Lalana Nuntakarn, Somponnat Sampattavanich, Usanarat Anurathapan, Suphanun Phuphanitcharoenkun, Savichaya Pornpaiboonstid, Suparerk Borwornpinyo, Suradej Hongeng

Journal:

 

The FoxO3 transcription factor is a key regulator of oxidative stress and erythroid maturation during erythropoiesis. In this study, we explored the involvement of FoxO3 in severe β-thalassemia. Using primary CD34+ hematopoietic progenitor cells from patients with β-thalassemia ...

Last Updated: 31 Dec 1969

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Correction of β-thalassemia mutant by base editor in human embryos.
 

Author(s): Puping Liang, Chenhui Ding, Hongwei Sun, Xiaowei Xie, Yanwen Xu, Xiya Zhang, Ying Sun, Yuanyan Xiong, Wenbin Ma, Yongxiang Liu, Yali Wang, Jianpei Fang, Dan Liu, Zhou Songyang, Canquan Zhou, Junjiu Huang

Journal: Protein Cell. 2017 Nov;8(11):811-822.

 

β-Thalassemia is a global health issue, caused by mutations in the HBB gene. Among these mutations, HBB -28 (A>G) mutations is one of the three most common mutations in China and Southeast Asia patients with β-thalassemia. Correcting this mutation in human embryos may prevent the ...

Last Updated: 31 Dec 1969

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

Cardiac complications in beta-thalassemia: From mice to men.
 

Author(s): Sirinart Kumfu, Suthat Fucharoen, Siriporn C Chattipakorn, Nipon Chattipakorn

Journal: Exp. Biol. Med. (Maywood). 2017 06;242(11):1126-1135.

 

Beta-thalassemia is an inherited hemoglobin disorder caused by reduced or absent synthesis of the beta globin chains of hemoglobin. This results in variable outcomes ranging from clinically asymptomatic to severe anemia, which then typically requires regular blood transfusion. These ...

Last Updated: 31 Dec 1969

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Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.
 

Author(s): Ali H Algiraigri, Nicola A M Wright, Elizabeth Oddone Paolucci, Aliya Kassam

Journal: Hematol Oncol Stem Cell Ther. 2017 Sep;10(3):116-125.

 

Nontransfusion-dependent β-thalassemia (NTDβT) syndromes consist of β-thalassemia intermedia and moderate hemoglobin E/β thalassemias. They are characterized by varying degrees of chronic anemia and a wide spectrum of complications due to ineffective erythropoiesis and iron overload ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy of Beta Thalassemia Using a Self-inactivating Lentiviral Vector
 

Status: Not yet recruiting

Condition Summary: Beta-Thalassemia

 

Last Updated: 28 Nov 2017

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Gene Therapy for Transfusion Dependent Beta-thalassemia
 

Status: Recruiting

Condition Summary: Beta-Thalassemia

 

Last Updated: 19 Feb 2018

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