Pafumi C, Zizza G, Caruso S, Todaro A M, Pernicone G, Bandiera S, Farina M, Russo A
University Department of Obstetrics and Gynaecology, S. Bambino Hospital, Catania, Italy.
Ann Hematol. 2000 Oct;79(10):571-3. doi: 10.1007/s002770000198.
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.
报道了一例临床病例,一名患有纯合子β地中海贫血的输血依赖型女性成功妊娠并产下正常婴儿,其伴侣无“地中海贫血特质”。该患者未出现铁沉积问题、未患可能使妊娠管理困难的病毒性疾病,孕期也无任何并发症。后续剖宫产过程中无需输血。妊娠结局是一名健康女婴,孕38周出生,无畸形或其他问题。这得益于详细的孕前指导和孕前期评估。该患者通常每20天需输血一次,并接受严格的去铁胺螯合疗法;然而,由于该药物已知的致畸作用,孕期暂停了此项治疗。铁蛋白的平均值仅略高于怀孕前。胎儿可能因其特殊的螯合活性维持了这些铁蛋白水平。分娩时采集了95毫升脐带血样本。众所周知,脐带血含有大量CD34+干细胞,即造血祖细胞。因此,采集脐带血用于移植给母亲及骨髓重建。此外,我们的经验表明,哺乳期的去铁胺治疗不会改变母乳中的铁排泄。因此,目前患有库利氏病的女性可能无需促排卵、避免宫内生长受限、胎儿丢失和早产,而实现正常妊娠。