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

View Details
Logo
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

View Details
werathah

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

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details
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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 1592 free, full-text research articles on human participants. First 3 results:

Raman characterizations of red blood cells with β-thalassemia using laser tweezers Raman spectroscopy.
 

Author(s): Wenguang Jia, Ping Chen, Wenqiang Chen, Yongqing Li

Journal: Medicine (Baltimore). 2018 Sep;97(39):e12611.

 

This study aimed to study the differences in Raman spectra of red blood cells (RBCs) among patients with β-thalassemia and controls using laser tweezers Raman spectroscopy (LTRS) system.A total of 33 patients with β-thalassemia major, 49 with β-thalassemia minor, and 65 controls ...

Last Updated: 31 Dec 1969

Go To URL
Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion.
 

Author(s): Ha Ly Thi Thanh, Huong Le Thi Thanh, Long Hoang Luong, Thinh Huy Tran, Su-Ching Liu, Hai Nam Truong, Thanh Van Ta, The-Hung Bui, Van Khanh Tran

Journal: Taiwan J Obstet Gynecol. 2018 Jun;57(3):435-441.

 

The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed ...

Last Updated: 31 Dec 1969

Go To URL
Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia.
 

Author(s): Alexis A Thompson, Mark C Walters, Janet Kwiatkowski, John E J Rasko, Jean-Antoine Ribeil, Suradej Hongeng, Elisa Magrin, Gary J Schiller, Emmanuel Payen, Michaela Semeraro, Despina Moshous, Francois Lefrere, Hervé Puy, Philippe Bourget, Alessandra Magnani, Laure Caccavelli, Jean-Sébastien Diana, Felipe Suarez, Fabrice Monpoux, Valentine Brousse, Catherine Poirot, Chantal Brouzes, Jean-François Meritet, Corinne Pondarré, Yves Beuzard, Stany Chrétien, Thibaud Lefebvre, David T Teachey, Usanarat Anurathapan, P Joy Ho, Christof von Kalle, Morris Kletzel, Elliott Vichinsky, Sandeep Soni, Gabor Veres, Olivier Negre, Robert W Ross, David Davidson, Alexandria Petrusich, Laura Sandler, Mohammed Asmal, Olivier Hermine, Mariane De Montalembert, Salima Hacein-Bey-Abina, Stéphane Blanche, Philippe Leboulch, Marina Cavazzana

Journal: N. Engl. J. Med.. 2018 04;378(16):1479-1493.

 

Donor availability and transplantation-related risks limit the broad use of allogeneic hematopoietic-cell transplantation in patients with transfusion-dependent β-thalassemia. After previously establishing that lentiviral transfer of a marked β-globin (β) gene could substitute ...

Last Updated: 31 Dec 1969

Go To URL

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

Comparison of Deferiprone to Deferasirox and Deferoxamine to Cardiac and Hepatic T2* MRI in Thalassemia Patients: Evidence-based Case Report.
 

Author(s): Pustika Amalia Wahidiyat, Mikhael Yosia, Teny Tjitra Sari

Journal: Acta Med Indones. 2018 Apr;50(2):168-176.

 

there are currently three iron chelator readily available for patients Indonesia; deferiprone/DFP (branded as Ferriprox), deferasirox/DFX (branded as Exjade) and deferoxamine/DFO (branded as Desferal). This study aims to determine which iron chelator is the most efficient in reducing ...

Last Updated: 31 Dec 1969

Go To URL
A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.
 

Author(s): Mousa A Alaithan, Sayed AbdulAzeez, J Francis Borgio

Journal: Saudi Med J. 2018 Apr;39(4):329-335.

 

Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene. Saudi Arabia is among the countries most affected bybeta-thalassemia, and this is particularly problematic in the Eastern regions. This review article is an attempt to compile all ...

Last Updated: 31 Dec 1969

Go To URL
Non-Transfusion-Dependent Thalassemia: An Update on Complications and Management.
 

Author(s): Joseph Sleiman, Ali Tarhini, Rayan Bou-Fakhredin, Antoine N Saliba, Maria Domenica Cappellini, Ali T Taher

Journal:

 

Patients with non-transfusion-dependent thalassemia (NTDT) experience many clinical complications despite their independence from frequent transfusions. Morbidities in NTDT stem from the interaction of multiple pathophysiological factors: ineffective erythropoiesis, iron overload ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

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

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

Status: Not yet recruiting

Condition Summary: Beta-Thalassemia

 

Last Updated: 28 Nov 2017

Go to URL