Alpha-thalassemia

Symptoms

What health problems should my doctor watching for in alpha-thalassemia?

The symptoms of alpha-thalassemia are variable, according to the severity of disease. Alpha-thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. We each have two copies of HBA1 and HBA2, for a total of four copies.

Those who have no working copies of HBA1 or HBA2 have the most severe form, hemoglobin Bart syndrome. Symptoms begin prenatally and death usually occurs in newborns. Doctors should be aware that these pregnancies can be complicated by preeclampia (extreme hypertension), excessive amniotic fluid or reduced amniotic fluid, bleeding in the genital tract, and premature delivery. During pregnancy women with alpha-thalassemia may experience more severe anemia. In the third trimester, increased rate of premature labor, preeclampsia and congestive heart failure have been reported.

The less severe form of alpha-thalassemia is called hemoglobin H disease. These individuals have one working copy of HBA1 or HBA2. Symptoms of this form vary from mild to more severe. Symptoms usually start by age one, but for some symptoms do not begin until adulthood. Doctors should watch for anemia, enlarged spleen, gallstones, slowed growth and decreased bone density. With time, patients may benefit from a blood transfusion. Indications that a blood transfusion may increase quality of life include fatigue, anemia, poor growth, poor weight gain and bone changes, such as enlargement of the upper jaw, around the eyes and forehead.

Those with alpha-thalassemia trait have two working copies of HBA1 or HBA2. They should be watched for mild anemia.

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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