Changing outcome of homozygous α-thalassemia:: Cautious optimism
Changing outcome of homozygous α-thalassemia:: Cautious optimism
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DOI：
10.1097/00043426-200011000-00014
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发表时间：
2000-11-01
影响因子：
1.2
通讯作者：
Vichinsky, EP
中科院分区：
文献类型：
--
作者：
Singer, ST;Styles, L;Vichinsky, EP
纯合子α -地中海贫血通常是一种致命的疾病，据报道只有少数长期存活的病例。作者提出了一个幸存的婴儿与这种疾病，并讨论了并发症，治疗，并暗示这种遗传性血红蛋白病。这名儿童没有接受产前干预，并接受了定期输血治疗。她生长发育正常，现在已经2.5岁了。文献回顾幸存者与巴特血红蛋白病揭示了一个强烈的围产期过程和巨大的患病率先天性泌尿生殖和肢体缺陷。在产前诊断、宫内干预和产后治疗方面的进步，延长了患有先天性缺陷的儿童的生存时间，这些缺陷直到最近才被认为是致命的。输血和螯合疗法以及骨髓移植提供了长期治疗和潜在的治愈选择。
Only a few long-term survivors of homozygous alpha -thalassemia, a usually fatal condition, have been reported. The authors present a surviving infant with this disorder and discuss the complications, treatments, and implications of this genetic hemoglobinopathy. The child had no antenatal intervention and has been treated with regular transfusions. She has had normal growth and development and is currently 2.5-years-old. A literature review of survivors with Bart hemoglobinopathy reveals an intense perinatal course and a great prevalence of congenital urogenital and limb defects. Advances in antenatal diagnosis, intrauterine intervention, and postnatal treatments have resulted in extended survival of children with congenital defects that until recently were considered invariably fatal. Transfusion and chelation therapy and bone marrow transplantation provide long-term treatment and potential curative options.