Children's Hospital & Research Center Oakland, Oakland, CA 94609, USA.
Hematology Am Soc Hematol Educ Program. 2009:35-41. doi: 10.1182/asheducation-2009.1.35.
Alpha thalassemia disorders are a group of hereditary anemias caused by absent or decreased production of the alpha chain of hemoglobin. Hemoglobin Bart's hydrops fetalis is usually a fatal in-utero disease caused by absence of the alpha genes. However, the molecular and genotypic expression of hemoglobin Bart's varies and increasing numbers of births are being reported. Population screening and prenatal diagnosis of at-risk couples is essential but often not performed. Most affected pregnancies are often undetected, resulting in severe fetal and maternal complications. Noninvasive monitoring by Doppler ultrasonagraphy with intrauterine transfusion therapy has changed the prognosis for this disorder. These advances in intrauterine and postnatal therapy have resulted in ethical dilemmas for the family and the provider.
阿尔法地中海贫血症是一组由血红蛋白阿尔法链缺失或减少引起的遗传性贫血症。血红蛋白 Bart's 胎儿水肿症通常是一种致命的宫内疾病，由阿尔法基因缺失引起。然而，血红蛋白 Bart's 的分子和基因型表达存在差异，越来越多的病例被报道。对高危夫妇进行人群筛查和产前诊断至关重要，但往往未得到实施。大多数受影响的妊娠通常未被发现，导致严重的胎儿和母体并发症。多普勒超声检查结合宫内输血治疗的非侵入性监测改变了这种疾病的预后。这些宫内和产后治疗的进展给家庭和医疗服务提供者带来了伦理困境。
