EP07.63: Signs of cortical development malformation in homozygous alpha‐thalassemia fetus with vascular‐type disruptive defects

Thalassemias are a group of inherited anemias characterised by deficient globin chain synthesis in hemoglobin tetramers. Homozygous α-thalassemia, prevalent in Southeast Asians, leads to inadequate α-globin chain synthesis in fetuses, hindering hemoglobin F production. Instead, abnormal hemoglobin Bart's forms, causing severe anemia and tissue hypoxia. These fetuses are prone to fetal hydrops and various anomalies, including limb and genital defects. Rarely, cortical malformations occur with homozygous α-thalassemia. We present a case of abnormal neuronal migration with limb defects in a fetus with homozygous α-thalassemia. A 37-year-old pregnant woman, with microcytic hypochromic anemia, underwent unremarkable first trimester ultrasound. At 16w5d, ultrasound revealed terminal limb defects, an enlarged heart, and cortical malformations in the fetus. Molecular testing confirmed Southeast Asian alpha-thalassemia mutation (--SEA/--SEA). In conclusion, our case suggests that homozygous α-thalassemia should be considered in fetuses with cortical malformation and limb defects, especially in Southeast Asian couples with in-utero anemic signs. 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.