A RARE INTERESTING CASE OF SICKLE CELL DISEASE WITH THALASSAEMIA MINOR DURING PREGNANCY
Anahita D Pandole*, Anita T Toke**,Suchitra N Pandit***, Sylvia F Noronha****
*Lecturer; **Registrar; ***Assoc. Prof. and Unit in charge; ****Lecturer; Department of Obstetrics and Gynaecology, LTMMC and LTMG Hospital, Sion, Mumbai 400 022.
It was very uncommon for a patient with sickle cell anaemia to pull through to a child bearing age and conceive until recently. Sickle cell disease presents with varied manifestations. The obstetrician has to be very careful about the complications of sickle cell disorder which can occur during pregnancy and labour. We had a case of sickle - thalassaemia syndrome who came to us in labour. The patient and the baby were discharged on day 10 in good condition.
It is only in the last four decades, women with sicklecell disease have survived to child bearing age in any number. The first report of a successful pregnancy was reported in 1931 by Yater and Mollari.
Sickle cell disease presents with varied manifestation, some patients can be asymptomatic with mild anaemia or some may present with crisis, cardiac failure or thrombo embolism. Perinatal mortality in sickle cell disorders can be as high as 45 to 50%. The obstetrician has to be very careful about life threatening complications of sickle cell disorder which can occur any time during the course of pregnancy especially during third trimester and labour. Here we are discussing a case of sickle-thalassaemia syndrome who came to us in labour.
Mrs. GJ a 25 year old primigravida, residing at Govandi came with 9 months amenorrhoea with pain in abdomen since one day. There was no H/o leaking or bleeding per vaginam. There was no H/o decreased or loss of foetal movements. Patient was unbooked.
Patient was admitted seven years back at Sion Hospital in the medical ward as a case of severe anaemia and jaundice. She was then diagnosed as a case of sickle cell disease with thalassaemia minor. Haemoglobin was 2 gm%. Hb electrophoresis showed 80% Hb-S, 17% Hb-F and 3% Hb-A2. Reticulocyte count was elevated upto 5%. Sickling test was positive. Total bilirubin was 2.4 mg%. SGOT was normal. USG abdomen showed moderate to severe splenomegaly. Fine needle aspiration cytology of the spleen showed sinusoids packed with sickle cells. Patient was treated with blood transfusions and splenectomy was done. Patient was then advised life long treatment with penicillin, hydroxyurea and disprin. Patient was asymptomatic since then. Subsequently she conceived but did not booked herself with any obstetrician.
Mrs. GJ came with 9 months amenorrhoea and labour pains in September 1999. There was no past H/o sickle cell crisis. She had haemolytic facies in the form of prominent malar eminences, depressed bridge of nose, a pale and sallow complexion. Pulse and blood pressure was normal. Respiratory and cardiovascular system examination was normal. Abdominal examination revealed the uterus to be 34-36 weeks with cephalic presentation, foetal heart rate was 142 beats per minute regular. Patient was in early labour. On vaginal examination cervix was 1.5 cm dilated, 80% effaced, vertex being the presenting part, membranes and show was present. Pelvis was adequate.
On investigating the patient, haemoglobin was 5.5 gm%. Hb-S was 20%. Total bilirubin was 0.9 mg%. Husband’s sickling test was negative. Two units of blood transfusion was given. Continuous oxygen was given by mask. Hydration was maintained. Antibiotics were given.
Penicillin and hydroxyurea were continued. Patient delivered a male child of 2.2 kg. Apgar Score at 1 min was 7-9. Baby was transferred to nursery for observation. Postdelivery patient was vigilantly monitored for signs and symptoms of crisis like pain in abdomen, fever and arthralgia.
On the second day of delivery, patient developed premonitory symptoms of crisis in the form of fever, arthralgia and abdominal pain. Haemoglobin was 7 gm% at that time. Hb-S was 40%. One more unit of blood was transfused. Hydration was maintained. Oxygen and antibiotics were continued.
Patient and baby were discharged on day 10. Mother and baby have followed up regularly. Baby is to be investigated at 6 months of age.
In India sickle cell anaemia and thalassaemia is common in Teli community of Vidarbha, Gujarat and some parts of North India. The prevalence of sickle cell disorder in Orissa is about 10-15% of general population. Patients of sickle cell disease have a varied presentation. Sickle cell disease with thalassaemia clinically behave like an homozygous sickle cell disorder. Key points in the management.
• Husband should be investigated for sickle cell disorder and accordingly genetic counselling should be offered.
• Avoiding infection during antenatal period.
• Oral iron and folic acid supplementation.
• Warning the patient about symptoms of sickle cell crisis.
During labour hypoxia, acidosis, infection and dehydration should be avoided. Anoxia is due to vasospasm in toxaemia were as anaemia and stasis due to sickle cell leads to anoxia. Therefore both of them produce a similar picture.
Increased incidence of pyelonephritis in sickle cell mother is related to scarring of renal medulla which predisposes to infection. Renal medullary scarring is a result of sickling of redcell in the vasarecta. Increased incidence of haematuria can be attributed to renal medullary infarction and papillary necrosis.
Postdelivery patient should be monitored for symptoms of crisis. Contraceptive advice and ongoing care after delivery is essential.
Though this patient came to us late, fortunately her husband’s sickling test was negative. She had an uneventful course during labour. Sickle cell crisis was detected early and vigilant monitoring with prompt treatment prevented her from going into a life threatening crisis.
We thank the Head of the Department and Dean for allowing us to publish this case report.
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