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

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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[Gene distribution characteristics of deletional α-thalassemia in Guangxi region].
 

Author(s): Qiang Zhang, Xin Fan, Sheng He, Chunyun Fu, Yanqing Tang, Qiuli Chen, Yuan Wei, Chenguang Zheng

Journal: Zhonghua Xue Ye Xue Za Zhi. 2014 Oct;35(10):941-3.

 

To analyze the detection rate and gene distribution characteristic of deletional α-thalassemia in Guangxi area, and to provide theoretic basis for thalassemia gene diagnosis and genetic counseling.

Last Updated: 23 Oct 2014

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[Molecular diagnosis for a novel deletion mutation of α thalassemia].
 

Author(s): Youqiong Li, Zhizhong Chen, Lin Zhao, Lin Wang, Mao Tian, Huayi Huang, Guifang Qin, Shiping Chen

Journal: Zhonghua Xue Ye Xue Za Zhi. 2014 Aug;35(8):724-7.

 

To raise awareness of the pathogenesis and diagnosis of thalassemia by reporting one case of α thalassemia patient with a large deletion fragment and analyzing the pedigree.

Last Updated: 25 Aug 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 "Alpha-Thalassemia" returned 9 free, full-text review articles on human participants. First 3 results:

Clinical manifestations of α-thalassemia.
 

Author(s): Elliott P Vichinsky

Journal:

 

α-Thalassemia mutations affect up to 5% of the world's population. The clinical spectrum ranges from an asymptomatic condition to a fatal in utero disease. Hemoglobin H disease results from mutations of three α-globin genes. Deletional forms result in a relatively mild anemia, whereas ...

Last Updated: 2 May 2013

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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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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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