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 828 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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Hamartoma of the spleen (splenoma) with calcifications in a child with beta-thalassemia: A case report.
 

Author(s): Dario Giambelluca, Dario Picone, Giuseppe Lo Re, Salvatore Pappalardo, Placido Romeo

Journal:

 

Splenic hamartoma (or splenoma) is a rare, benign, vascular tumor, often incidentally found at imaging, surgery or autopsy. Albeit usually asymptomatic and rare in children, when it occurs in the pediatric population it is more commonly symptomatic. We report a case of a 15-year-old ...

Last Updated: 31 Dec 1969

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Haplotypes inside the beta-globin gene: use as new biomarkers for beta-thalassemia prenatal diagnosis in north of Iran.
 

Author(s): Mohammad Bagher Hashemi-Soteh, Seyed Saeed Mousavi, Alireza Tafazoli

Journal:

 

Beta-thalassemia is common in the Mediterranean area as well as the Middle East and India. Official report in Iran revealed the average prevalence rate of carriers about 4%. More than 20 restriction fragment length polymorphisms (RFLPs) are known in the beta-globin gene cluster and ...

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

Gene Addition Strategies for β-Thalassemia and Sickle Cell Anemia.
 

Author(s): Alisa C Dong, Stefano Rivella

Journal: Adv. Exp. Med. Biol.. 2017 ;1013():155-176.

 

Beta-thalassemia and sickle cell anemia are two of the most common diseases related to the hemoglobin protein. In these diseases, the beta-globin gene is mutated, causing severe anemia and ineffective erythropoiesis. Patients can additionally present with a number of life-threatening ...

Last Updated: 31 Dec 1969

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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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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 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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