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β地中海贫血中的胎儿HLA分型:对造血干细胞移植的意义。

Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation.

作者信息

Orofino Maria Grazia, Argiolu Francesca, Sanna Maria Adele, Rosatelli Maria Cristina, Tuveri Teresa, Scalas Maria Teresa, Badiali Manuela, Cossu Paola, Puddu Rosalba, Lai Maria Eliana, Cao Antonio

机构信息

Universita degli Studi di Cagliari, Department of Biomedical Science and Biotechnology, Paediatric Clinic of the Bone Marrow Transplant Centre, Cagliari, Italy.

出版信息

Lancet. 2003 Jul 5;362(9377):41-2. doi: 10.1016/S0140-6736(03)13806-8.

DOI:10.1016/S0140-6736(03)13806-8
PMID:12853199
Abstract

Stem-cell transplantation can cure beta thalassaemia. We aimed to assess whether fetal HLA typing done early in the pregnancy of couples who were at risk of beta thalassaemia could provide an alternative to pregnancy termination if the prospect of a bone-marrow transplantation from a family member was available. In our clinic in Sardinia, we did fetal HLA typing for 49 couples at risk of having a baby with beta thalassaemia. Two affected children were born and successfully received a transplantation from a family donor. Five non-affected fetuses were HLA compatible with an affected sibling and their cord blood was harvested for a future transplantation.

摘要

干细胞移植可以治愈β地中海贫血。我们旨在评估,对于有β地中海贫血风险的夫妇,在孕期早期进行胎儿HLA分型,如果有家庭成员进行骨髓移植的可能性,是否可以替代终止妊娠。在我们位于撒丁岛的诊所,我们对49对有生育β地中海贫血患儿风险的夫妇进行了胎儿HLA分型。两名患病儿童出生,并成功接受了来自家庭供体的移植。五名未患病胎儿与患病同胞HLA配型相合,他们的脐带血被采集以备将来移植。

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引用本文的文献

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From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience.从β地中海贫血的产前诊断到植入前基因诊断。8748例预防模型:单中心40年经验
J Clin Med. 2018 Feb 20;7(2):35. doi: 10.3390/jcm7020035.
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The prevention of thalassemia.地中海贫血症的预防。
Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a011775. doi: 10.1101/cshperspect.a011775.
3
Beta-thalassemia.β-地中海贫血。
Orphanet J Rare Dis. 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11.
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Multiorgan engraftment and differentiation of human cord blood CD34+ Lin- cells in goats assessed by gene expression profiling.通过基因表达谱分析评估人脐带血CD34+ Lin-细胞在山羊体内的多器官移植和分化情况。
Proc Natl Acad Sci U S A. 2006 May 16;103(20):7801-6. doi: 10.1073/pnas.0602646103. Epub 2006 May 8.
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Preimplantation HLA typing: having children to save our loved ones.植入前HLA分型:通过生育来拯救我们所爱的人。
J Med Ethics. 2005 Oct;31(10):582-6. doi: 10.1136/jme.2004.010348.
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Preimplantation genetic diagnosis: choosing the "good enough" child.植入前基因诊断:选择“足够好”的孩子。
Health Care Anal. 2004 Mar;12(1):51-60. doi: 10.1023/B:HCAN.0000026653.01543.3a.