Pregnancy outcome of a transfusion-dependent thalassemic woman

A clinical case concerning a normal pregnancy outcome in a transfusion-dependent woman affected by homozygous beta thalassemia, whose partner was negative with regard to the "thalassemic trait", was reported. The patient showed no iron deposit problems, viral diseases that could have made the pregnancy management difficult or any complications during the gestation. Blood transfusion was not necessary during the following caesarean delivery. The outcome was a healthy female child, born at a gestational age of 38 weeks, showing neither malformations nor problems. This was possible due to a detailed preconceptual guidance and a pre-pregnancy assessment. The patient normally would have had a blood transfusion every 20 days and a strict desferrioxamine chelating therapy; however, this treatment was suspended during her pregnancy because of the well-recognised teratogenic effects of the drug. The average values of ferritin were just a little higher than before being pregnant. The foetus, due to her particular chelating activity, probably maintained these ferritin levels. A sample of 95 ml umbilical cord blood was taken during the delivery. It is well known that umbilical cord blood contains a good quantity of CD34+ stem cells, the haematopoietic progenitors. It was therefore collected for transplanting to the mother and for bone marrow reconstitution. Moreover, our experience suggests that desferrioxamine therapy during lactation does not alter iron excretion in breast milk. Therefore, women now affected by Cooley disease may possibly have a normal pregnancy without ovulation induction, intrauterine growth retardation, foetal loss and preterm labour.