Morris Claudia R, Singer Sylvia T, Walters Mark C
Children's Hospital & Research Center Oakland, Oakland, CA 94609, USA.
Curr Opin Hematol. 2006 Nov;13(6):407-18. doi: 10.1097/01.moh.0000245685.24462.4e.
Sickle cell disease and beta-thalassemia major are clinically significant hereditary anemias that elicit worldwide attention due to the frequency and severity of these disorders. Historically, most children who inherited these disorders died in the first decade of life. Recently, however, supportive care has extended lifespan through the fifth decade of life and beyond, with survival through early adulthood now indistinguishable from those unaffected by these disorders. As a result, chronic health impairments that significantly reduce the quality of life such as pulmonary hypertension and the consequences of transfusional iron overload have become principal challenges.
We focus on important recent advances that are very likely to alter the nature of supportive care of these disorders or make it possible to identify prospectively high-risk patients who might benefit from novel therapies or even curative treatment in the form of hematopoietic cell transplantation. The availability of the latter, traditionally constrained by the requirement of a human leukocyte antigen-identical sibling donor, is very likely to be broadened as results after unrelated donor hematopoietic cell transplantation improve.
In this review, several areas that are very likely to have a significant impact in the management of patients who inherit these disorders are discussed.
镰状细胞病和重型β地中海贫血是具有临床意义的遗传性贫血，因其发病率和严重程度而引起全球关注。从历史上看，大多数患有这些疾病的儿童在生命的第一个十年内死亡。然而，最近，支持性治疗已将患者寿命延长至五十多岁及以后，目前成年早期的生存率与未受这些疾病影响的人没有区别。因此，显著降低生活质量的慢性健康损害，如肺动脉高压和输血性铁过载的后果，已成为主要挑战。
我们关注近期的重要进展，这些进展很可能改变这些疾病支持性治疗的性质，或者有可能前瞻性地识别出可能从新疗法甚至造血细胞移植形式的治愈性治疗中获益的高危患者。传统上受人类白细胞抗原相同同胞供体要求限制的造血细胞移植的可用性，很可能随着无关供体造血细胞移植结果的改善而扩大。
在本综述中，讨论了几个很可能对患有这些遗传性疾病的患者的管理产生重大影响的领域。
