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 1509 free, full-text research articles on human participants. First 3 results:

Mitochondrial Changes in β0-Thalassemia/Hb E Disease.
 

Author(s): Kornpat Khungwanmaythawee, Wannapa Sornjai, Atchara Paemanee, Janejira Jaratsittisin, Suthat Fucharoen, Saovaros Svasti, Pathrapol Lithanatudom, Sittiruk Roytrakul, Duncan R Smith

Journal:

 

The compound β°-thalassemia/Hb E hemoglobinopathy is characterized by an unusually large range of presentation from essentially asymptomatic to a severe transfusion dependent state. While a number of factors are known that moderate presentation, these factors do not account for ...

Last Updated: 20 Apr 2016

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Combination of Oral Iron Chelators for Thalassemia.
 

Author(s): Satya Prakash Yadav

Journal: Indian Pediatr. 2016 Mar;53(3):199-200.

 

Last Updated: 31 Mar 2016

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Screening for Thalassemia Carrier Status in Pregnancy and Pre-Natal Diagnosis.
 

Author(s): Vidit Gupta, Pramod Sharma, Rakesh Jora, Minhas Amandeep, Anjani Kumar

Journal: Indian Pediatr. 2015 Sep;52(9):808-9.

 

This hospital-based study reports the results of antenatal screening for thalassemia in pregnant women visiting a hospital in Jodhpur, Rajasthan, India. Eighty-eight (5.9%) of 1500 women screened for thalassemia had thalassemia trait. Twenty at-risk couples were identified and two ...

Last Updated: 1 Nov 2015

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

Profile of deferasirox for the treatment of patients with non-transfusion-dependent thalassemia syndromes.
 

Author(s): Paolo Ricchi, Maria Marsella

Journal:

 

It has been clearly shown that iron overload adds progressively significant morbidity and mortality in patients with non-transfusion-dependent thalassemia (NTDT). The lack of physiological mechanisms to eliminate the excess of iron requires effective iron chelation therapy. The reduced ...

Last Updated: 31 Dec 2015

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Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis.
 

Author(s): Johannes J M L Hoffmann, Eloísa Urrechaga, Urko Aguirre

Journal: Clin. Chem. Lab. Med.. 2015 Nov;53(12):1883-94.

 

More than 40 mathematical indices have been proposed in the hematological literature for discriminating between iron deficiency anemia and thalassemia trait in subjects with microcytic red blood cells (RBCs). None of these discriminant indices is 100% sensitive and specific and also ...

Last Updated: 5 Nov 2015

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α-Globin as a molecular target in the treatment of β-thalassemia.
 

Author(s): Sachith Mettananda, Richard J Gibbons, Douglas R Higgs

Journal: Blood. 2015 Jun;125(24):3694-701.

 

The thalassemias, together with sickle cell anemia and its variants, are the world's most common form of inherited anemia, and in economically undeveloped countries, they still account for tens of thousands of premature deaths every year. In developed countries, treatment of thalassemia ...

Last Updated: 13 Jun 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Reproductive Capacity and Iron Burden in Thalassemia
 

Status: Recruiting

Condition Summary: THALASSEMIA MAJOR

 

Last Updated: 14 Jun 2016

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Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter
 

Status: Recruiting

Condition Summary: Thalassemia; Iron Deficiency

 

Last Updated: 30 Aug 2015

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