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

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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Generation of iPSC line MU011.A-hiPS from homozygous α-thalassemia fetal skin fibroblasts.
 

Author(s): Amornrat Tangprasittipap, Chonthicha Satirapod, Bunyada Jittorntrum, Sassawat Lertritanan, Usanarat Anurathaphan, Phetcharat Phanthong, Suparerk Borwornpinyo, Narisorn Kitiyanant, Suradej Hongeng

Journal: Stem Cell Res. 2015 Nov;15(3):506-9.

 

Human iPSC line MU011.A-hiPS was generated from homozygous α-thalassemia (-(SEA)/-(SEA)) fetal skin fibroblasts using a non-integrative reprogramming method. Reprogramming factors OCT3/4, SOX2, KLF4, L-MYC, LIN28, and shRNA of TP53 contained in three episomal vectors were delivered ...

Last Updated: 18 Mar 2016

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Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective.
 

Author(s): Zeynep Karakaş, Begüm Koç, Sonay Temurhan, Tuğba Elgün, Serap Karaman, Gamze Asker, Genco Gençay, Çetin Timur, Zeynep Yıldız Yıldırmak, Tiraje Celkan, Ömer Devecioğlu, Filiz Aydın

Journal: Turk J Haematol. 2015 Dec;32(4):344-50.

 

Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause (-20.5, MED, THAI, FIL) α0 -thalassemia. The aim ...

Last Updated: 19 Jan 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 "Alpha-Thalassemia" returned 10 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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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

Screening for Alpha Thalassemia in Healthy Volunteers
 

Status: Recruiting

Condition Summary: Alpha Thalassemia

 

Last Updated: 18 Oct 2017

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In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
 

Status: Recruiting

Condition Summary: Alpha Thalassemia Major; Hemoglobinopathy; With Thalassemia; Hemoglobinopathies; Fetal Anemia; Fetal Hydrops; Alpha; Thalassemia; Thalassemia Major; Thalassemia Alpha; A-Thalassemia

 

Last Updated: 5 Oct 2017

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EPO-4-Rhesus: Role of Darbepoetin Alfa in Reducing Late Anaemia in Neonates With Red Blood Cell Alloimmunization After Intrauterine Transfusions
 

Status: Not yet recruiting

Condition Summary: Erythroblastosis, Fetal; Erythroblastosis Fetalis, Rh Disease; Erythroblastosis Fetalis Due to RH Antibodies; Erythroblastosis Fetalis Due to Isoimmunization

 

Last Updated: 17 Oct 2017

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