Sickle cell disease and β‐thalassaemia major in pregnancy

Abstract

Key content Pregnancy in women with sickle cell disease continues to show high rates of maternal and fetal mortality and morbidity. This applies to all forms of sickle cell disease. The place of blood transfusions in helping women with sickle cell disease in pregnancy continues to be controversial. Genetic counselling for women with haemoglobinopathies should be provided as part of the UK national Antenatal Haemoglobinopathy Screening Programme, which was introduced in 2001. There is an increased incidence of venous thromboembolism in individuals with sickle cell disease, transfusion‐dependent β‐thalassaemia and sickle cell trait. Individuals with β‐thalassaemia major who are able to survive childhood by virtue of the availability of regular and frequent blood transfusions frequently acquire the organ damage caused by haemosiderosis. Among the organs involved are the pituitary, the thyroid, the islet cells of the pancreas, the heart and the liver. The main concern for women with β‐thalassaemia major contemplating pregnancy is the possibility of cardiac dysfunction, resulting from myocardial haemosiderosis, causing both ventricular pump failure and arrythmias. Learning objectives To understand the key care requirements of women with sickle cell disease and β‐thalassaemia major, prior to pregnancy, during pregnancy and in the postnatal period. To appreciate the importance of knowledgeable care for this relatively uncommon group of patients, and to be able to work collaboratively with haematologists and others who have such experience and expertise. To understand the principles relevant to antenatal screening for haemoglobinopathies, and to be able to give appropriate advice to couples. Ethical issues Suboptimal care is sometimes given when patients are cared for in hospitals with little experience of the condition, and outcomes can be improved by arranging care in centres with specialist expertise. Should pregnancy be encouraged, and fertility treatment given for women with a reduced life expectancy? How should this be balanced with respect for patient autonomy?