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 1513 free, full-text research articles on human participants. First 3 results:

An Aγ-globin G->A gene polymorphism associated with β(0)39 thalassemia globin gene and high fetal hemoglobin production.
 

Author(s): Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti, Roberto Gambari

Journal:

 

Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) ...

Last Updated: 30 Aug 2017

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Evaluation of staff performance and interpretation of the screening program for prevention of thalassemia.
 

Author(s): Simaporn Prommetta, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supawadee Yamsri, Attawut Chaiboonroeng, Supan Fucharoen

Journal: Biochem Med (Zagreb). 2017 Jun;27(2):387-397.

 

Thalassemia screening program has been implemented for years in Southeast Asia, but no external quality assessment program has been established. We have developed and initiated the proficiency testing (PT) program for the first time in Thailand with the aim to assess the screening ...

Last Updated: 11 Jul 2017

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Seroprevalence and clinical characteristics of viral hepatitis in transfusion-dependent thalassemia and hemophilia patients.
 

Author(s): Tyng-Yuan Jang, Pei-Chin Lin, Ching-I Huang, Yu-Mei Liao, Ming-Lun Yeh, Yu-Sheng Zeng, Po-Cheng Liang, Wan-Yi Hsu, Shih-Pien Tsai, Zu-Yau Lin, Shinn-Cherng Chen, Jee-Fu Huang, Chia-Yen Dai, Chung-Feng Huang, Shyh-Shin Chiou, Wan-Long Chuang, Ming-Lung Yu

Journal:

 

Transfusion dependent subjects are at a great risk of viral hepatitis infection. We aimed to evaluate the prevalence and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection among transfusion-dependent patients in Taiwan.

Last Updated: 9 Jun 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 "Thalassemia" returned 79 free, full-text review articles on human participants. First 3 results:

Cure for thalassemia major - from allogeneic hematopoietic stem cell transplantation to gene therapy.
 

Author(s): Alok Srivastava, Ramachandran V Shaji

Journal: Haematologica. 2017 Feb;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: 2 Dec 2016

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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: 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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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 for Transfusion Dependent Beta-thalassemia
 

Status: Recruiting

Condition Summary: Beta-Thalassemia

 

Last Updated: 5 Jun 2017

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Last Updated: 9 Nov 2017

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