Hereditary Spherocytosis and Pregnancy: A Case Report


  • Andreia Miguel Serviço de Medicina Materno-Fetal. Maternidade Dr. Alfredo da Costa. Centro Hospitalar Universitário de Lisboa Central. Lisboa.
  • Maria José Alves Serviço de Medicina Materno-Fetal. Maternidade Dr. Alfredo da Costa. Centro Hospitalar Universitário de Lisboa Central. Lisboa.
  • Ana Catarina Massa Serviço de Medicina Materno-Fetal. Maternidade Dr. Alfredo da Costa. Centro Hospitalar Universitário de Lisboa Central. Lisboa.



Anemia, Hemolytic/etiology, Hypertension, Portal/complications, Pregnancy Complications, Spherocytosis, Hereditary/complications


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.


Download data is not yet available.


Andolfo I, Russo R, Gambale A, Iolascon A. New insights on hereditary erythrocyte membrane defects. Haematologica. 2016;101:1284-94. DOI:

Bolton-Maggs P, Langer J, Iolascon A, Tittensor P, King M. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2011;156:37-49. DOI:

Mohren M, Markmann I, Dworschak U, Franke A, Maas C, Mewes S, et al. Thromboembolic complications after splenectomy for hematologic diseases. Am J Hematol. 2004;76:143-7. DOI:

de’Angelis N, Abdalla S, Lizzi V, Esposito F, Genova P, Roy L, et al. Incidence and predictors of portal and splenic vein thrombosis after pure laparoscopic splenectomy. Surgery. 2017;162:1219-30. DOI:

Andrade F, Shukla A, Bureau C, Senzolo M, D’Alteroche L, Heurgué A, et al. Pregnancy in idiopathic non-cirrhotic portal hypertension: a multicentric study on maternal and fetal management and outcome. J Hepatol. 2018;69:1242-9. DOI:

Pajor A, Lehoczky D, Szakács Z. Pregnancy and hereditary spherocytosis. Report of 8 patients and a review. Arch Gynecol Obstet. 1993;253:37-41. DOI:

Maberry MC, Mason RA, Cunningham FG, Pritchard JA. Pregnancy complicated by hereditary spherocytosis. Obstet Gynecol. 1992;79:735-8.

Gershovitz M, Sergienko R, Friedler J, Wiznitzer A, Zlotnik A, Sheiner E. Pregnancy outcome in women following splenectomy. J Womens Health. 2011;20:1233-7. DOI:

Khadke B, Prasad M, Gupta AS. A case of pregnancy with hereditary spherocytosis. 2018. [cited 2021 Jan 25]. Available from:

Aggarwal N, Negi N, Aggarwal A, Bodh V, Dhiman R. Pregnancy with portal hypertension. J Clin Exp Hepatol. 2014;4:163-71. DOI:

Guan X, Huang L, Li L. Acute mesenteric venous thrombosis in a pregnant woman at 35 weeks of gestation: a case report and review of the literature. BMC Pregnancy Childbirth. 2018;18:487. DOI:

Miranda-Vilela AL. Role of polymorphisms in Factor V (FV Leiden), prothrombin, Plasminogen Activator Inhibitor Type-1 (PAI-1), Methylenetetrahydrofolate Reductase (MTHFR) and cystathionine. Mini-Rev Med Chem. 2012;12:997-1006. DOI:

Scifres C, Macones G. The utility of thrombophilia testing in pregnant women with thrombosis: fact or fiction? Am J Obstet Gynecol. 2008;199:344.e1-7. DOI:

Ray JG, Shmorgun D, Chan WS. Common C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of venous thromboembolism: meta-analysis of 31 studies. Pathophysiol Haemost Thromb. 2002;32:51-8. DOI:



How to Cite

Miguel A, Alves MJ, Massa AC. Hereditary Spherocytosis and Pregnancy: A Case Report. Acta Med Port [Internet]. 2023 Feb. 8 [cited 2024 Jun. 21];36(6):424-7. Available from:



Case Report