Alpha-Thalassemia

Common Name(s)

Alpha-Thalassemia

Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected individuals have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome; for HbH disease, occasional red blood cell transfusions may be needed.
 

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Condition Specific Organizations

Following organizations serve the condition "Alpha-Thalassemia" for support, advocacy or research.

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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 "Alpha-Thalassemia" returned 156 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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Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.
 

Author(s): Huijuan Ge, Xuan Huang, Xuchao Li, Shengpei Chen, Jing Zheng, Haojun Jiang, Chunlei Zhang, Xiaoyu Pan, Jing Guo, Fang Chen, Ning Chen, Qun Fang, Hui Jiang, Wei Wang

Journal:

 

The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequencing technology, noninvasive prenatal detection of chromosome aneuploidy and single base variation ...

Last Updated: 10 Jul 2013

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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 "Alpha-Thalassemia" returned 8 free, full-text review articles on human participants. First 3 results:

Alpha thalassemia major--new mutations, intrauterine management, and outcomes.
 

Author(s): Elliott P Vichinsky

Journal: Hematology Am Soc Hematol Educ Program. 2009 ;():35-41.

 

Alpha thalassemia disorders are a group of hereditary anemias caused by absent or decreased production of the alpha chain of hemoglobin. Hemoglobin Bart's hydrops fetalis is usually a fatal in-utero disease caused by absence of the alpha genes. However, the molecular and genotypic ...

Last Updated: 16 Dec 2009

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Variable clinical phenotypes of alpha-thalassemia syndromes.
 

Author(s): Sylvia Titi Singer

Journal:

 

Genetic mutations of the alpha genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of alpha-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, ...

Last Updated: 20 Jul 2009

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[Major alpha-thalassemia: antenatal diagnosis, case report and literature review].
 

Author(s): H Saadi, S Alexander, P Barlow, N Van Regemorter, B Gulbis, D Thomas

Journal: J Gynecol Obstet Biol Reprod (Paris). 2009 May;38(3):258-62.

 

Homozygous alpha-thalassaemia or Bart's hydrops fetalis is a genetic disease with autosomal recessive transmission. The condition is lethal for the fetus because of hypoxia and anemia. For the mother there is an increased risk of the severe forms of preeclampsia and its complications. ...

Last Updated: 8 May 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel
 

Status: Recruiting

Condition Summary: Thalassemia Alpha; Hemolytic Anemia

 

Last Updated: 16 Jul 2013

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Genetics of Alpha Thalassemia in Israeli Ethnic Groups
 

Status: Recruiting

Condition Summary: Alpha Thalassemia

 

Last Updated: 22 Jun 2011

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Last Updated: 16 Jul 2013

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