Abstract

We describe a case of Haemoglobin Sun Prairie, a rare form of alpha thalassemia, caused by an unstable alpha-2-globin variant created by a point mutation in the gene coding for the globulin structure at codon 130, resulting in an alanine to proline switch. This results in an haemolytic anaemia; characterised by a low mean corpuscular volume, small mean corpuscular haemoglobin but relatively normal mean corpuscular haemoglobin concentration. This 25 year old lady is one of only a small number of people in the world with the condition, and this case report is the first reported case during pregnancy. Fertility is not an issue; her main symptoms being those of anaemia and gross haemaglobinuria, for which she was blood transfusion dependent. Potential pregnancy related complications include premature labour, intrauterine growth restriction and pre-eclampsia. Serial fetal growth scans were undertaken revealing a growth velocity within normal limits and her haemoglobin was maintained at approximately 9 g/dl, however, at 39 weeks gestation pregnancy induced hypertension developed. This necessitated induction of labour which subsequently resulted in delivery by emergency Caesarean section for presumed fetal distress. The baby had normal cord gases and good APGAR scores. This lady has gone on to have 2 further pregnancies with the delivery of 2 healthy babies. This case report illustrates that when managed appropriately, with close surveillance in a joint obstetric and haematology clinic, with serial fetal growth scans and blood transfusions as and when required, the outcome for both mother and baby are good.