Hereditary spherocytosis with successful splenectomy in a pregnant black South African lady: a case report

Hereditary spherocytosis is a rare cause of chronic haemolytic anaemia. It is rarer in the black population with extremely few cases reported. Initial assessment of a patient with suspected disease should include documenting clinical features of chronic haemolysis and a family history. Its management in pregnancy is challenging and needs a multidisciplinary team. We report on a black South African woman with hereditary spherocytosis and massive splenomegaly presenting with severe haemolytic anaemia at 23rd week of pregnancy. She had a successful splenectomy.


Introduction
Hereditary spherocytosis (HS) is the most common inherited red cell membrane disorder causing haemolytic anaemia [1]. It is the most common inherited haemolytic anaemia in Caucasians with a population incidence of 1:2500-5000 [1][2][3][4]. Hereditary spherocytosis has also been reported in other racial groups [2][3][4]. There are, however, rare reports in the black population. It is commonly inherited in autosomal dominant pattern; autosomal recessive inheritance is also reported, and some genetic studies have revealed that an unexpectedly large number of nondominant cases are due to de novo mutations in the HS genes [1]. Deficiency in red blood cell membrane proteins, ankyrin and spectrin, causes HS [1,2]. These are major proteins that act as cytoskeleton of the red blood cell and as a result of defective membrane, red blood cells become spherically shaped; the resulting spherocytes become trapped in the spleen as they course through the sinuses, and the red cells are engulfed by macrophages.
It is particularly important to exclude stomatocytosis where splenectomy is contraindicated because of the thrombotic risk [2,3].  Family history revealed that her late father had similar episodes of recurring anaemia and jaundice but with no established diagnosis. She had never travelled to any malaria zones. Examination revealed a young lady, who was pale, jaundiced, but with no lymphadenopathy and she had a massive splenomegaly with no hepatomegaly or ascites. Our patient as with most persons with HS had splenomegaly.

Patient and observation
Manifestations of hypersplenism such as severe haemolysis rather than splenomegaly per se is an indication for splenectomy [2][3][4]. It is noteworthy, that serum levels of unconjugated bilirubin and reticulocyte count dramatically dropped to normal levels in our patient following splenectomy. Furthermore, her haemoglobin levels remained normal at review 6 weeks post splenectomy underscoring the benefit of splenectomy in our patient. Reports of HS in pregnancy have ranged from none requirements of splenectomies to splenectomies in pregnancy [5]. Splenectomy is effective in reducing haemolysis, leading to a significant prolongation of the red cell lifespan, although not necessarily to normal [2][3][4]. Patients with severe disease who are not completely cured by splenectomy have remarkable amelioration in symptoms following removal of the spleen [2,3]. The rare splenectomy failure is usually associated with an accessory spleen [6]. The second trimester is the optimal time to perform surgery as in our patient due to increased risk of teratogenicity in the first trimester from exposure to anaesthetic agents and the technical difficulty due to obstruction of the surgical field by the gravid uterus as well as the increased risk of preterm labour in the third trimester. There is a risk of pregnancy associated life threatening aplastic crisis, haemolytic crisis and thrombosis because of life threatening sepsis from encapsulated organisms.
Splenectomy also reduces the occurrence of leg ulcerations and gall stones [2][3][4]. Our patient however, neither had lower limb ulcerations or gall stones on abdominal ultrasound imaging. Post splenectomy antibiotic prophylaxis and immunization against pneumococcus, meningococcus and haemophilus influenza, like what our patient has received, has been shown to reduce, and not eliminate the risk of post splenectomy sepsis [2]. The limitations in our case report include the non-performance of OFT and glycerol lysis tests. These tests are not available in our setting.

Conclusion
Hereditary spherocytosis is a rare condition and rarer in black ethnicity. High index of suspicion is necessary for its diagnosis. Our case is a black African lady, primigravida, in the second trimester who had a successful splenectomy.

Competing interests
The authors declare no competing interests.

Authors' contributions
khaled Elmezughi and Chukwuma Ekpebegh both contributed equally to the conception, design, drafting and revising the manuscript. Both authors read and approved the final manuscript. Table   Table 1: laboratory results at presentation and 8 week post splenectomy