Alpha-thalassemia

Treatment

Is there a treatment for alpha-thalassemia?

Treatment for alpha-thalassemia depends on the specific type an individual has. Hemoglobin Bart is the most severe. Hemoglobin H can range from mild to severe. Carriers may experience mild anemia or no symptoms at all.

Fetuses with hemoglobin Bart typically do not survive beyond the newborn period. A few babies have received transfusions while in the uterus or immediately after delivery and have survived to five years of age. These fetuses are monitored before birth by ultrasonography and, as children, require regular transfusions. They usually have serious symptoms including birth defects of the heart, limbs and genitals, and delays in development. The mothers of these infants often experience maternal complications including severe anemia, preeclampsia, an abnormal amount of amniotic fluid, and delivery complications. Because of these serious complications, prenatal diagnosis and termination of affected pregnancies can be considered.

For individuals with hemoglobin H disease, supplementation of folic acid is generally recommended, especially in children, pregnant women, and women who may become pregnant. Because affected individuals can have low levels of certain vitamins, a non-iron containing multivitamin is usually recommended. Patients should avoid oxidative compounds and medications, and a high iron diet. Any infections should be treated promptly. There should be ongoing monitoring of growth, bone health, spleen size, leg ulcers, fatigue, and inflammation of the gallbladder.

During pregnancy, women with Hemoglobin H disease should be monitored for potential preeclampsia, congestive heart failure, threatened miscarriage and worsening anemia. Children should be monitored for growth and development every 6-12 months.

Usually blood transfusions are not necessary for individuals with hemoglobin H disease. However, over time symptoms such as poor cardiac function, fatigue, anemia, poor growth, poor weight gain and bone changes, such as enlargement of the upper jaw, around the eyes and forehead, may worsen and indicate the need for a blood transfusion. The ages at which these symptoms worsen, if at all, depends on the severity of disease in each individual.

People affected with alpha-thalassemia experience anemia. Patients should be watched for anemia especially if they have an infection, a fever, an enlarged spleen, or are pregnant. Patients can experience a hemolytic crisis, which is a rapid destruction of red blood cells. During a hemolytic crisis, patients require immediate medical treatment, possibly including a blood transfusion. During a hemolytic crisis and transfusion, hydration and fever control is very important. The cause of infection should be identified and treated. Patients who receive blood transfusions, and even those who do not, may develop iron overload, as determined by measurements of liver iron. These patients may require chelation therapy, treatments to rid the body of excess iron. Patients should be monitored for iron overload and hemoglobin levels at least annually.

For those with an enlarged spleen, having the spleen removed may improve symptoms. Risks associated with this include blood infection and blood clots. Aspirin is recommended for those who undergo this surgery to control clotting. For those with persistent gallstones that do not respond to antibiotics or surgical removal of the stones, removal of the gallbladder may be indicated.

Carriers of alpha-thalassemia may have mild anemia, which would need monitoring and potentially treatment.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/alpha-thalassemia/treatment/5623 • DATE UPDATED: 2019-06-10

References

Vichinsky, E. (2012). Advances in the treatment of alpha-thalassemia. Blood Reviews, S31-S34. http://www.sciencedirect.com/science/article/pii/S0268960X12700103

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 https://www.ncbi.nlm.nih.gov/pubmed/20301608

Piel, F. & Weatherall, D. (2014). The alpha-thalassemias. The New England Journal of Medicine, 1908-1916. doi: 10.1056/NEJMra1404415

Alpha thalassemia. (2009). Genetics Home Reference. https://ghr.nlm.nih.gov/condition/alpha-thalassemia

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