Abstract:
Diamond Blackfan Anaemia (DBA) is a rare genetic disorder, affecting red blood cells. Pregnancy in women affected by DBA should be managed as a high-risk pregnancy, as it may trigger the relapse of anaemia, and is associated with both maternal and foetal complications. Corticosteroids are the first line of treatment, but a low threshold for blood transfusion should be considered to correct low haemoglobin in pregnancy. An adequate multidisciplinary input and planning is the key to ensure optimal perinatal outcome. We decided to report this case to highlight the implications of pregnancy on DBA and vice versa, taking into consideration the safest approach for the best possible outcomes for the mother and her baby.
摘要:
DiamondBlackfan贫血(DBA)是一种罕见的遗传性疾病,影响红细胞。受DBA影响的女性的妊娠应作为高危妊娠进行管理,因为它可能会引发贫血的复发,并且与母体和胎儿的并发症有关。皮质类固醇是一线治疗,但低输血阈值应考虑纠正妊娠期低血红蛋白。充分的多学科投入和计划是确保最佳围产期结局的关键。我们决定报告这个病例,以强调怀孕对DBA的影响,反之亦然,考虑到最安全的方法,为母亲和她的孩子带来最好的结果。