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

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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 1478 free, full-text research articles on human participants. First 3 results:

Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.
 

Author(s): Cyril Cyrus, Chittibabu Vatte, J Francis Borgio, Abdullah Al-Rubaish, Shahanas Chathoth, Zaki A Nasserullah, Sana Al Jarrash, Ahmed Sulaiman, Hatem Qutub, Hassan Alsaleem, Alhusain J Alzahrani, Martin H Steinberg, Amein K Al Ali

Journal: Biomed Res Int. 2017 ;2017():1972429.

 

Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, ...

Last Updated: 10 Mar 2017

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A retinopathy in young patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait: a case report.
 

Author(s): Zohra Ouzzif, Aissam El Maataoui, Zeinab Traore, Asmae Biaz, Samira El Machtani, Abdellah Dami, Sanae Bouhsain, Nezha Messaoudi, Fatiha Benchrifa

Journal:

 

The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis.

Last Updated: 19 Jan 2017

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Last Updated: 23 Dec 2016

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

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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Current and future alternative therapies for beta-thalassemia major.
 

Author(s): Edouard de Dreuzy, Kanit Bhukhai, Philippe Leboulch, Emmanuel Payen

Journal: Biomed J. 2016 Feb;39(1):24-38.

 

Beta-thalassemia is a group of frequent genetic disorders resulting in the synthesis of little or no β-globin chains. Novel approaches are being developed to correct the resulting α/β-globin chain imbalance, in an effort to move beyond the palliative management of this disease ...

Last Updated: 23 Apr 2016

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Atypical femoral fracture in a beta-thalassemia major patient with previous bisphosphonate use: case report and a review of the literature.
 

Author(s): K Lampropoulou-Adamidou, S Tournis, I K Triantafyllopoulos

Journal: J Musculoskelet Neuronal Interact. 2016 Mar;16(1):75-8.

 

There are numerous studies presenting the beneficial effect of bisphosphonates (BPs) on bone disease of patients suffering from beta-thalassemia major (TM). Although BPs have been widely used, adverse events have been described including atypical femoral fractures (AFF). In the present ...

Last Updated: 5 Mar 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy for Transfusion Dependent Beta-thalassemia
 

Status: Recruiting

Condition Summary: Beta-Thalassemia

 

Last Updated: 21 Jun 2016

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Reproductive Capacity and Iron Burden in Thalassemia
 

Status: Recruiting

Condition Summary: THALASSEMIA MAJOR

 

Last Updated: 14 Jun 2016

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