Thalassemia

Common Name(s)

Thalassemia

Thalassemia is an inherited blood disorder that occurs when the body does not make enough or makes an abnormal form of hemoglobin, an important component of red blood cells. With a lack of hemoglobin, the red blood cells are unable to function properly, meaning that there is not enough oxygen delivered to cells in the body, causing people to feel tired, weak, or short of breath (anemia). Severe anemia can lead to damage to the organs and death. There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Both alpha and beta include two forms: thalassemia major and thalassemia minor. Thalassemia occurs most commonly in persons from Southeast Asia, the Mediterranean, and in those of African descent. The most severe form of alpha thalassemia major causes stillbirth. Children who are born with thalassemia major, also known as Cooley’s anemia, are normal at birth but develop severe anemia during the first year of life, and can also develop other symptoms including bone deformities in the face, fatigue, growth failure, shortness of breath, and yellow skin.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thalassemia" for support, advocacy or research.

Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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Cooleys Anemia Foundation, Inc.

Advancing the treatment and cure for this genetic blood disease. Enhancing the quality of life of patients. Educating the medical profession, thalassemia trait carriers and the public about thalassemia.

Last Updated: 1 Jun 2015

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thalassemia" for support, advocacy or research.

Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

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Cooleys Anemia Foundation, Inc.

Advancing the treatment and cure for this genetic blood disease. Enhancing the quality of life of patients. Educating the medical profession, thalassemia trait carriers and the public about thalassemia.

http://cooleysanemia.org

Last Updated: 1 Jun 2015

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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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 "Thalassemia" returned 1529 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 "Thalassemia" returned 81 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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Cure for thalassemia major - from allogeneic hematopoietic stem cell transplantation to gene therapy.
 

Author(s): Alok Srivastava, Ramachandran V Shaji

Journal: Haematologica. 2017 02;102(2):214-223.

 

Allogeneic hematopoietic stem cell transplantation has been well established for several decades as gene replacement therapy for patients with thalassemia major, and now offers very high rates of cure for patients who have access to this therapy. Outcomes have improved tremendously ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital
 

Status: Not yet recruiting

Condition Summary: Thalassemia Major

 

Last Updated: 17 Jul 2017

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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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Last Updated: 9 Nov 2017

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