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.

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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.

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: 11 Feb 2013

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

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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 1099 free, full-text research articles on human participants. First 3 results:

Interaction of hemoglobin Grey Lynn (Vientiane) with a non-deletional α(+)-thalassemia in an adult Thai proband.
 

Author(s): Kritsada Singha, Goonnapa Fucharoen, Supan Fucharoen

Journal:

 

Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a substitution of Phe for Leu at position 91 of α1-globin chain, originally described in individual of unknown ethnic background. This article addresses the interaction of Hb Grey Lynn with a non-deletional α(+)-thalassemia found ...

Last Updated: 14 Mar 2014

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Epistasis between the haptoglobin common variant and α+thalassemia influences risk of severe malaria in Kenyan children.
 

Author(s): Sarah H Atkinson, Sophie M Uyoga, Emily Nyatichi, Alex W Macharia, Gideon Nyutu, Carolyne Ndila, Dominic P Kwiatkowski, Kirk A Rockett, Thomas N Williams

Journal: Blood. 2014 Mar;123(13):2008-16.

 

Haptoglobin (Hp) scavenges free hemoglobin following malaria-induced hemolysis. Few studies have investigated the relationship between the common Hp variants and the risk of severe malaria, and their results are inconclusive. We conducted a case-control study of 996 children with ...

Last Updated: 28 Mar 2014

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Red cell alloimmunization and infectious marker status (human immunodeficiency virus, hepatitis B virus and hepatitis C virus) in multiply transfused thalassemia patients of North India.
 

Author(s): Raj Nath Makroo, Jatinder Singh Arora, Mohit Chowdhry, Aakanksha Bhatia, Uday Kumar Thakur, Antony Minimol

Journal: Indian J Pathol Microbiol. ;56(4):378-83.

 

Patients with thalassemia major are largely transfusion dependent and are thus exposed to a variety of risks such as transmission of infectious diseases, iron overload and alloimmunization. This study was performed to determine the prevalence of human immune deficiency virus (HIV), ...

Last Updated: 20 Jan 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 55 free, full-text review articles on human participants. First 3 results:

Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area.
 

Author(s): Mohamad H Qari, Yasser Wali, Muneer H Albagshi, Mohammad Alshahrani, Azzah Alzahrani, Ibrahim A Alhijji, Abdulkareem Almomen, Abdullah Aljefri, Hussain H Al Saeed, Shaker Abdullah, Ahmad Al Rustumani, Khoutir Mahour, Shaker A Mousa

Journal:

 

Thalassemia syndrome has diverse clinical presentations and a global spread that has far exceeded the classical Mediterranean basin where the mutations arose. The mutations that give rise to either alpha or beta thalassemia are numerous, resulting in a wide spectrum of clinical severity ...

Last Updated: 15 Nov 2013

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[High-dose cyclophosphamide for severe aplastic anemia associated with β-thalassemia: a case report and literatures review].
 

Author(s): Xin Zhao, Yuan Li, Kang Zhou, Li Zhang, Li-ping Jing, Lei Ye, Guang-xin Peng, Yang Li, Jian-ping Li, Hui-hui Fan, Lin Song, Feng-kui Zhang

Journal: Zhonghua Xue Ye Xue Za Zhi. 2013 Jun;34(6):532-5.

 

To investigate the clinical features and therapeutic method for severe aplastic anemia (SAA) associated with β-thalassemia, and to improve the recognition of the disease.

Last Updated: 5 Jul 2013

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Ineffective erythropoiesis in β -thalassemia.
 

Author(s): Jean-Antoine Ribeil, Jean-Benoit Arlet, Michael Dussiot, Ivan Cruz Moura, Geneviève Courtois, Olivier Hermine

Journal:

 

In humans, β -thalassemia dyserythropoiesis is characterized by expansion of early erythroid precursors and erythroid progenitors and then ineffective erythropoiesis. This ineffective erythropoiesis is defined as a suboptimal production of mature erythrocytes originating from a proliferating ...

Last Updated: 22 Apr 2013

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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: 11 Dec 2013

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Haploidentical Hematopoietic Stem Cell Transplantation for Children With Sickle Cell Disease and Thalassemia Using CD34+ Positive Selected Grafts
 

Status: Not yet recruiting

Condition Summary: Sickle Cell-thalassemia Disease; Thalassemia

 

Last Updated: 16 Jun 2014

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