Diagnosis and management of severe SPTA1-associated congenital anaemia in a family cohort affected by two founder variants

Abstract

Hereditary spherocytosis due to mutations in the SPTA gene is a rare cause of fetal anaemia which can present as hydrops fetalis. We present a unique family cohort demonstrating severe transfusion-dependent anaemia with prenatal onset due to two SPTA1 founder variants which were diagnosed over several years as genetic testing capabilities advanced. Each patient was managed antenatally with fetal blood sampling (FBS) and intrauterine transfusions (IUT) with varying levels of success. Out of six affected pregnancies, two resulted in fetal demise, two resulted in postnatal demise and two long-term survivors required bone marrow transplant. While FBS and IUT are key in the antenatal management, multidisciplinary care is essential given the long-term complex medical comorbidities among postnatal survivors.

Keywords: Congenital disorders; Genetic screening / counselling; Haematology (incl blood transfusion); Materno-fetal medicine; Pregnancy.