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Updated: Aug 11, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
[Hereditary Spherocytosis and Pregnancy: A Case Report]
Andreia Miguel1, Maria José Alves1, Ana Catarina Massa1
1Serviço de Medicina Materno-Fetal. Maternidade Dr. Alfredo da Costa. Centro Hospitalar Universitário de Lisboa Central. Lisboa. Portugal.
Abstract:
Even though it is a rare condition, hereditary spherocytosis (EH) is the main inherited cause of haemolytic anaemia and presents with a broad spectrum of symptoms. In the few reported cases of pregnancy and EH, maternal and foetal outcomes are controversial. Particularly, reports of pregnancies with EH associated with thrombosis or portal hypertension are scarce. We present a case of a woman who underwent splenectomy with EH and non-cirrhotic portal hypertension. Our patient presented polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibit-1 that have a controversial impact on thrombotic risk. During pregnancy, the woman showed no signs of haemodynamical or cirrhosis deterioration. Concerning the foetus, late-onset foetal growth restriction was diagnosed but did not determine preterm delivery. Five weeks post-partum after an episode of acute abdominal pain, mesenteric venous thrombosis was diagnosed. In this case report, we describe our experience in managing pregnancy, labour and post-partum of a woman with EH, highlighting potential complications of this condition.
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