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: 11 Feb 2013

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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: 11 Feb 2013

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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 1167 free, full-text research articles on human participants. First 3 results:

Hepcidin is suppressed by erythropoiesis in hemoglobin E β-thalassemia and β-thalassemia trait.
 

Author(s): Emma Jones, Sant-Rayn Pasricha, Angela Allen, Patricia Evans, Chris A Fisher, Katherine Wray, Anuja Premawardhena, Dyananda Bandara, Ashok Perera, Craig Webster, Pamela Sturges, Nancy F Olivieri, Timothy St Pierre, Andrew E Armitage, John B Porter, David J Weatherall, Hal Drakesmith

Journal: Blood. 2015 Jan;125(5):873-80.

 

Hemoglobin E (HbE) β-thalassemia is the most common severe thalassemia syndrome across Asia, and millions of people are carriers. Clinical heterogeneity in HbE β-thalassemia is incompletely explained by genotype, and the interaction of phenotypic variation with hepcidin is unknown. ...

Last Updated: 30 Jan 2015

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α-Thalassemia with Haemoglobin Adana mutation: prenatal diagnosis.
 

Author(s): N Z Zainal, H Alauddin, S Ahmad, N H Hussin

Journal: Malays J Pathol. 2014 Dec;36(3):207-11.

 

Thalassaemia carriers are common in the Asian region including Malaysia. Asymptomatic patients can be undiagnosed until they present for their antenatal visits. Devastating obstetric outcome may further complicate the pregnancy if both parents are thalassaemia carriers leading to ...

Last Updated: 16 Dec 2014

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No evidence of xenotropic murine leukemia virus-related virus infection in Brazilian multiply transfused patients with sickle cell disease and beta-thalassemia major.
 

Author(s): Svetoslav Nanev Slavov, Katia Kaori Otaguiri, Mayra Dorigan Macedo, Maurício Cristiano Rocha-Júnior, Ana Cristina Silva-Pinto, Simone Kashima, Dimas Tadeu Covas

Journal: New Microbiol.. 2014 Oct;37(4):543-50.

 

Although xenotropic murine leukemia virus-related virus (XMRV) has been regarded as a laboratory contaminant, it remains one of the most controversial viruses. The objective of the study was to determine if XMRV is present in 44 patients with beta-thalassemia major, 48 with sickle ...

Last Updated: 12 Nov 2014

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

[Hemoglobin H disease combined with hemoglobin Q-thailand and β-thalassemia: one case report and literature review].
 

Author(s): Jianhong Xie, Guoqing Wang, Qizhi Xiao, Yongliang Zhang, Yuqiu Zhou, Liqing Hu

Journal: Zhonghua Xue Ye Xue Za Zhi. 2014 Sep;35(9):840-1.

 

Last Updated: 23 Sep 2014

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[Advances in pathogenesis and correlated clinical research of hypercoagulability in β thalassemia].
 

Author(s): Rong-Yu Lv, Fei-Qiu Wen, Jie Yu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Jul;16(7):774-8.

 

This article summarizes the pathogenesis of hypercoagulability in β thalassemia patients, including platelet activation, alteration of red blood cell membranes, abnormal expression of adhesion molecules on vascular endothelial cells and iron overload. Clinical evidence, clinical ...

Last Updated: 10 Jul 2014

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Evidence-based focused review of the status of hematopoietic stem cell transplantation as treatment of sickle cell disease and thalassemia.
 

Author(s): Allison King, Shalini Shenoy

Journal: Blood. 2014 May;123(20):3089-94; quiz 3210.

 

Last Updated: 16 May 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study to Determine the Safety and Tolerability of Sotatercept (ACE-011) in Adults With Beta( β)- Thalassemia.
 

Status: Recruiting

Condition Summary: Beta Thalassemia Major; Beta Thalassemia Intermedia

 

Last Updated: 9 Sep 2014

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Reproductive Capacity and Iron Burden in Thalassemia
 

Status: Recruiting

Condition Summary: THALASSEMIA MAJOR

 

Last Updated: 2 Dec 2014

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Endocrine and Nutritional Assessment in B Thalassemia Major
 

Status: Recruiting

Condition Summary: Thalassemia

 

Last Updated: 16 Jul 2013

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