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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

[Molecular bases of α-thalassemia in Argentina].
 

Author(s): Karen G Scheps, Liliana Francipane, Abigail Nash, Gloria E Cerrone, Silvia B Copelli, Viviana Varela

Journal: Medicina (B Aires). 2015 ;75(2):81-6.

 

The α-thalassemia is one of the most common hereditary disorders worldwide. Currently, molecular diagnostics is the only available tool to achieve an accurate diagnosis. The purpose of this study was to characterize the molecular bases of these syndromes in our environment and to ...

Last Updated: 29 Apr 2015

Go To URL
α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.
 

Author(s): Maria Grazia Bisconte, Mercedes Caldora, Gennaro Musollino, Giovanna Cardiero, Angela Flagiello, Gaetana La Porta, Laura Lagona, Romeo Prezioso, Gabriele Qualtieri, Carlo Gaudiano, Emilia Medulla, Antonello Merlino, Piero Pucci, Giuseppina Lacerra

Journal:

 

We identified two new variants in the third exon of the α-globin gene in families from southern Italy: the Hb Rogliano, α1 cod108 ACC>AAC or α1[α108(G15)Thr→Asn] and the Hb Policoro, α2 cod124 TCC>CCC or α2[α124(H7)Ser→Pro]. The carriers showed mild α-thalassemia phenotype ...

Last Updated: 3 Mar 2015

Go To URL
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

Go To URL

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

Sonographic markers of fetal α-thalassemia major.
 

Author(s): Xinyan Li, Qichang Zhou, Ming Zhang, Xiaoxian Tian, Yili Zhao

Journal: J Ultrasound Med. 2015 Feb;34(2):197-206.

 

α-Thalassemia prevails in Southeast Asia, where α-thalassemia major is a lethal type. Sonography is a helpful and cost-effective screening tool for detecting α-thalassemia major fetuses. The cardiothoracic ratio, placental thickness, and middle cerebral artery peak systolic velocity ...

Last Updated: 23 Jan 2015

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetics of Alpha Thalassemia in Israeli Ethnic Groups
 

Status: Recruiting

Condition Summary: Alpha Thalassemia

 

Last Updated: 22 Jun 2011

Go to URL