P18.19: Prenatal diagnosis and treatment of alpha‐thalassemia major

Abstract

A 39-year-old Vietnamese woman was referred for fetal echocardiography at 23 weeks of gestation due to cardiomegaly. Heart to chest area ratio was 0.57. There was holosystolic regurgitation of the TRV, hyperdynamic circulation (MCA PSV 70 cm/s - 2.08 MoM), inconsiderable ascites and hepatomegaly. Fetal anemia was suspected. Fetal blood sampling confirmed anemia with elevated erythroblasts: Hb - 6.3 g/dL, RBC - 2.6 × 106/uL, Hct - 27%, MCV - 101 fL, MCH - 24 pg, WBC - 82 × 103/uL. Intrauterine transfusion of 60 ml packed red cells was performed. The supportive therapy with digoxin was introduced. Alloimmunisation, infection and fetomaternal hemorrhage were excluded. An increase in the MCA PSV to 1.6 MoM was diagnosed again at 30 weeks. At the second cordocentesis Hb was 9.2 g/dL, RBC - 4.1 × 106/uL, Hct -34%, WBC −47 × 103/uL. The unexpected recurrence of anemia 7 weeks after transfusion raised the suspicion of a congenital defect in hemoglobin synthesis. Alpha-thalassemia major, the most common reason of fetal anemia and hydrops in people of Asian origin, was suspected. The next transfusion was not performed due to non-reassuring fetal heart rate pattern. The female neonate (1590 g, Apgar score 4-8-9) was delivered three days later due to threatening asphyxia. The diagnosis of HbBart's hydrops fetalis (SEA/SEA) was confirmed using molecular techniques. The infant is 10 months old now and requires repeated blood transfusions. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.