![]() The UCSF Fetal Treatment Center offers intrauterine transfusions (IUT) for fetuses with ATM. When a prenatal diagnosis of ATM is confirmed, pregnancy management options include close fetal monitoring, pregnancy termination, or fetal intervention. These procedures carry a small risk of miscarriage (> 1 in 500). Prenatal diagnosis for ATM is usually done either by chorionic villus sampling (CVS), performed between 10 weeks and 14 weeks of gestation, or by amniocentesis, performed after 16 weeks gestation. What are my choices during this pregnancy?Ĭouples identified to be at risk based on their genetic screening, or those who have had a previous pregnancy affected with ATM, may choose to obtain genetic counseling.Ĭouples at risk for alpha thalassemia in pregnancy have the option to pursue prenatal diagnosis to determine whether their fetus has ATM. Early diagnosis and treatment of pregnancies affected with ATM, prior to signs of fetal hydrops, is critical to prevent these severe symptoms in the mother. ![]() This condition is so severe that it requires delivering the baby immediately. The mother develops symptoms that are similar to pre-eclampsia, such as vomiting, hypertension, peripheral edema (swelling of the hands and feet), proteinuria (protein in the urine), and pulmonary edema (fluid in the lungs). In cases with extreme fetal hydrops, the mother may be at risk for maternal mirror syndrome, where the mother's condition mimics that of the sick fetus. The development of hydrops in a fetus with ATM is quite serious these fetuses can die before birth without fetal intervention. Fetal hydrops can be seen on ultrasound when the fetus accumulates excess fluid around the heart, lungs, or intestines, as well as thickening of the skin or placenta. Progressive fetal anemia can lead to heart failure because of stress on the fetal heart, which can be seen on ultrasound as fetal hydrops. What is the outcome for a fetus with alpha thalassemia major?Īlpha thalassemia major is so severe that affected fetuses will develop anemia due to the lack of functioning red blood cells needed to provide oxygen. This disease is also sometimes called Hemoglobin Bart’s Hydrops Fetalis. Fetal therapies, including transfusing the developing fetus with red blood cells to treat the anemia, can allow the fetus to survive to birth. ATM is almost uniformly fatal in utero without intervention. “Alpha thalassemia major” (ATM) occurs when all four alpha globin genes are non-functioning.Some patients may require treatment, including recurrent blood transfusions to manage their anemia. Hemoglobin H disease can vary widely, with individuals developing symptoms any time after birth through adulthood. “Hemoglobin H disease” is defined as having only one functioning alpha globin gene.A CBC for those with two non-functioning genes will show smaller and fewer red blood cells. In some cases, individuals with two non-functioning genes may have anemia. Individuals with one or two non-functioning genes are usually asymptomatic.The severity of the disease depends on the number of functioning alpha globin genes. ![]() Every person has four copies of the alpha globin gene. Specific testing for thalassemia should be performed for patients who are at high risk for thalassemia, such as hemoglobin typing and alpha-globin common mutation analysis.ĭownload our Prenatal Screening & Diagnosis Algorithm for Thalassemia How serious is alpha thalassemia?Īlpha thalassemia has varying degrees of severity. Individuals whose ancestry traces to Asia, the Pacific Islands, Mediterranean, Middle East, or Africa are at high risk for thalassemia. If the results show a reduced mean corpuscular volume (MCV), and the parents have a normal iron status (not anemic because of iron deficiency), then specific testing for hereditary anemias including alpha thalassemia should be performed. Preliminary screening of parents for alpha thalassemia is performed by a simple blood test called a “complete blood count“ (CBC). A pregnancy is at risk for ATM only if both parents have two non-functioning genes, in which case the risk that the fetus will inherit both sets of non-functioning genes and have ATM is 1 in 4, or 25%. Alpha Thalassemia Major (ATM) is an inherited autosomal recessive disease, in which two non-functioning alpha globin genes are passed from each parent to the fetus, resulting in loss of function of all four alpha globin genes in the fetus.
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