Khadke B*, Prasad M**, Gupta AS***
(* Junior Resident, ** Assistant Professor, *** Professor, Department of Obstetrics and Gynecology, Seth G S Medical College and K E M Hospital, Mumbai, India.)
Hereditary spherocytosis (HS) is a common inherited erythrocytic membranopathy, mostly presenting as hemolytic anemia. Here we are presenting a multigravida woman, a diagnosed case of hereditary spherocytosis requiring multiple blood transfusions in the antenatal period.
Hereditary spherocytosis (HS) is a common type of hemolytic anemia. In an unselected population, the frequency is around 1 in 5000. The problem lies in the red cell membrane proteins; spectrin, ankyrin, band 3 protein and protein 4. The abnormal red cell membrane proteins give rise to an unusual susceptibility to lysis. Osmotic fragility is a hallmark of hereditary spherocytosis. Peripheral smear shows spherocytes. Most individuals have mild or only moderate disease. Typical cases present with family history and in 75% of patients, inheritance is autosomal dominant. Folate supplements are adequate for mild cases while splenectomy is required for severe cases. The disease can affect pregnancy in many ways.
A 33 year old patient, gravida 3 para 1 living 1 abortion 1, married for 5 years registered in antenatal outpatient department at 9 weeks of gestation with a hemoglobin of 8.5 gm %. She was diagnosed as a case of hereditary spherocytosis 8 years back. She was icteric. Her mother and brother both were diagnosed cases of HS and both of them had undergone splenectomy. Hematologists were consulted and they advised continuation of 1000 mcg of folic acid and regular monitoring of red blood cell indices.
Her first pregnancy was a full term vaginal delivery with no history of blood transfusion, and a healthy female child of 3.5 kg was born. Second pregnancy was a spontaneous abortion at the third month of gestation, for which emergency curettage was done. The current pregnancy was a spontaneous conception. At 30 weeks of gestation, she presented with complaints of breathlessness and excessive fatigue. On examination, pallor was present, and pulse was around 110 bpm, with a respiratory rate of 30 cycles per minute. Abdominal examination showed splenomegaly, and a live fetus with no uterine activity. She was admitted to the intensive care unit with severe anemia, and heart failure. Hemoglobin was 2.6 gm % and platelet count was 80,000/ cc and serum bilirubin was elevated. She was stabilized with diuretics, and non-invasive ventilation. The diagnosis of hemolytic crisis was considered and she was transfused with 5 unit packed red cells over ten days. Post transfusion hemoglobin was 7.7 gm %. She was then discharged. She followed up in the antenatal outpatient department once in two weeks, and was otherwise asymptomatic.
At 36 weeks of gestation, she came with pain in abdomen and leaking per vaginum. Abdominal examination showed live fetus with regular heart rate pattern and good uterine activity. Vaginal examination showed 6 cm dilated internal os with a vertex presentation. She progressed spontaneously and delivered a female child of 1.26 kg with APGAR score of 9/10. Neonate was shifted to NICU for weight gain and screening. Mother was given one unit packed red cells peripartum. Postpartum period was otherwise uneventful and she was discharged on day 4.
Our patient did not have an autosomal dominant mode of transmission. Her first child was unaffected by the disease. Pregnancy in HS is usually uneventful.[2,3] However, some specific problems can arise. In our patient, there was one prior term birth and one spontaneous abortion. In the case series by Pajor et al, they had noticed a 68% rate of term birth and 21% rate of spontaneous abortion.
In our patient, there was one episode of hemolytic crisis in the 30th week of gestation, necessitating multiple blood transfusion. Pregnancy is a well known trigger for hemolytic crisis, as shown by HO-Yen et al.
In the case series by Pajor et al, hemolytic crises was seen in 30% of the cases. In our patient, apart from anemia and resultant heart failure, there were no major problems. In the case series by Maberry et al also, the main problem that was encountered was anemia.
Our patient developed cardiac failure. The causes of cardiac failure in spherocytosis can be severe anemia, and rarely due to cardiac hemosiderosis, as described by Fujino et al.
Our patient overcame the hemolytic crisis without requirement for splenectomy. However, two cases of hemolytic crisis necessitating splenectomy have also been described in literature. Brabek et al and Pajor et al [3,4] have mentioned that pregnancies with HS, who have undergone splenectomy have lesser problems compared to those without.
The neonate in our case had intrauterine growth restriction, but no features of hydrops fetalis. Association between hydrops fetalis and spherocytosis has also been described. Though the neonate in our case needed a prolonged NICU stay, overall neonatal outcomes are good, as opined by Maberry et al.
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- Gallagher PG. The Red Blood Cell Membrane and Its Disorders: Hereditary Spherocytosis, Elliptocytosis, and Related Diseases. In Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligsohn U, Prchal JT. 8th ed. California. McGraw-Hill 2010. pp 897-9.
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- Fujino T, Inoue S, Katsuki S, Higo T, Ide T, Oda Y, et al. Fatal Cardiac Hemochromatosis in a Patient with Hereditary Spherocytosis. Int Heart J. 2018;59(2):427-30.
- Moore A, Sherman MM, Strongin MJ. Hereditary spherocytosis with hemolytic crisis during pregnancy. Treatment by splenectomy. Obstet Gynecol. 1976;47(1):19S-21S.
- Hannah DM, Tressler TB, Taboada CD. Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis. Case Rep Womens Health. 2017;16:4-7.
Khadke B, Prasad M, Gupta AS. A Case Of Pregnancy With Hereditary Spherocytosis. JPGO 2018. Volume 5 No.12. Available from: https://www.jpgo.org/2018/12/a-case-of-pregnancy-with-hereditary.html