Alpha-thalassemia

Causes

What gene change causes alpha-thalassemia?

Alpha-thalassemia is caused by deletions or mutations in the HBA1 and/or HBA2 genes, meaning pieces of the gene are missing or changed. Both of these genes tell the body to make a protein called alpha globin, which is a component of hemoglobin. Hemoglobin is the protein in red blood cells responsible for carrying and delivering oxygen to cells throughout the body.

References
  • Alpha thalassemia. (2009). Genetics Home Reference. https://ghr.nlm.nih.gov/condition/alpha-thalassemia
  • Origa, R., Moi, P., Galanello, R., & Cao, A. (2013). Alpha-Thalassemia. GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2013. Available at http://www.genetests.org. Accessed (2/29/2016).
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Why is alpha-thalassemia caused by the HBA1 and/or HBA2 gene change?

Does anything make alpha-thalassemia worse?

Why is alpha-thalassemia caused by the HBA1 and/or HBA2 gene change?

Alpha-thalassemia is caused by deletions or mutations in the HBA1 and/or HBA2 genes, meaning pieces of the gene are missing or changed. Both of these genes tell the body to make a protein called alpha globin, which is a component of hemoglobin. Hemoglobin is the protein in red blood cells responsible for carrying and delivering oxygen to cells throughout the body. We each have two copies, called alleles, of HBA1 and HBA2, for a total of four alleles. When one or more of these alleles has a change, the body cannot produce alpha globin correctly, resulting in a reduced ability of red blood cells to carry oxygen throughout the body. If three or four alleles are changed, the cells produce an abnormal form of hemoglobin called hemoglobin H or hemoglobin Bart, respectively. These types of hemoglobin do not easily release oxygen, preventing cells from receiving the oxygen they need. Hemoglobin H can form abnormal clumps in the cells that can lead to cell death. Because the cells do not receive the oxygen they need, affected individuals experience symptoms from mild to severe, such as anemia, enlarged liver and spleen, yellowing of the eyes and skin, overgrowth of the upper jaw, prominent forehead, and death.

References
  • Alpha thalassemia. (2009). Genetics Home Reference. https://ghr.nlm.nih.gov/condition/alpha-thalassemia
  • Origa, R., Moi, P., Galanello, R., & Cao, A. (2013). Alpha-Thalassemia. GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2013. Available at http://www.genetests.org. Accessed (2/29/2016).
Does anything make alpha-thalassemia worse?

People with a form of alpha-thalassemia called hemoglobin H (HbH) disease should avoid a diet high in iron, unnecessary iron supplements, infections, fever, oxidant drugs such as sulphonamides and some antimalarial drugs. Your doctor can give you more specific information on medications to avoid. A dietician can help you choose a diet with an appropriate amount of iron.

References
  • Origa, R., Moi, P., Galanello, R., & Cao, A. (2013). Alpha-Thalassemia. GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2013. Available at http://www.genetests.org. Accessed (2/29/2016).
  • Vichinsky, E. (2012). Advances in the treatment of alpha-thalassemia. Blood Reviews, S31-S34. http://www.sciencedirect.com/science/article/pii/S0268960X12700103

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