A 26 year-old primigravida booked with a known diagnosis of congenital dyserythropoietic anaemia type I (CDA I). This rare (less than 1 in 100 000 births) autosomal recessive red cell disorder is characterised by ineffective erythropoiesis.
Usually a moderate anaemia, a few patients remain transfusion dependent throughout adult life. All types of CDA share a high incidence of cholelithiasis and iron loading due to upregulation of iron resorption, and most patients, as did our lady, require a splenectomy and cholecystectomy shortly after diagnosis.
Our patient's booking haemoglobin was 9.5g/dl. She was to continue prophylactic penicillin throughout the pregnancy and avoid iron supplementation. Monthly serial growth ultrasound assessments were planned from 24 weeks gestation. Her haemoglobin level remained stable throughout pregnancy. At 36 weeks gestation, she developed pre-eclampsia. Induction of labour at 37 weeks failed and a live male baby weighing 3.2kg was delivered in good condition by Caesarean section.
Although more than 150 patients with CDA type I are reported in the literature, the only pregnancy outcome data comes from six Bedouin women. The mechanisms underlying the lower birth weights and higher Caesarean section rates observed in these women are unclear. However, moderate to severe anaemia is a known risk factor for prematurity, low birth weight and complicated delivery.
In dyserythropoietic disorders, high dose folic acid is recommended and if significant iron overload is suspected, endocrine and cardiac status should be checked. The high platelet counts associated with splenectomy may justify low dose aspirin to minimise the thromboembolic risk.
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