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2018年8月27日星期一

如何治疗患有严重地中海贫血症的孩子?来了解Saviour Siblings 计划




患有常染色体显性遗传或隐性遗传疾病的夫妇很有可能怀孕具有严重的遗传后果。 β地中海贫血是马来西亚和东南亚流行的一种此类疾病。

总结来说,地中海贫血是马来西亚的公共卫生问题。据估计,这个国家每年有350名婴儿出生,主要是依靠输血治疗地中海贫血。这个数字每年将累积增加,给患者和家庭带来巨大的社会和经济困难。

大多数重型地中海贫血患者都屈服于悲惨,痛苦和折磨的生活。他们的生活以医院环境为中心。定期输血,铁超负荷,全身衰弱和身体不健康损害了他们的生命。失去教育,就业,沮丧和绝望会增加他们的痛苦。


来自健康的HLA相容的骨髓供体或脐带血,优选来自兄弟姐妹的造血干细胞移植(HSCT)可能是β-地中海贫血患者恢复正常血细胞形成(造血)的最佳治疗选择或唯一可能的治疗方法。许多患者仍然无法接受这种治疗,因为难以在直系家庭和大家庭中找到HLA匹配供体。因此,患有非捐赠者的患者和没有捐赠者的患者可以从Savior兄弟姐妹计划(SSP)中受益。

Saviour Siblings 是通过体外受精而生的孩子,其组织(来自脐带血的HSC)将被捐赠,以便兄弟或姐妹将免于危及生命的遗传疾病。

超越常规植入前基因检测非整倍性(PGT-A)和植入前突变基因检测(PGT-M),Alpha生育中心现在提供植入前基因检测HLA(PGT-HLA),帮助父母怀孕一个孩子是与他们的兄弟姐妹的组织(HLA)匹配。在Saviour Siblings 的诞生期间,收获富含干细胞(否则被认为是废物)的脐带血并输注给垂死的儿童以恢复正常的血细胞形成。

Alpha生育中心是马来西亚第一个也是唯一一个IVF中心,它在胚胎活组织检查中提供基于NGS的高分辨率HLA基因分型,以选择染色体健康(PGT-A),无疾病(PGT-M)和HLA匹配的胚胎( PGT-HLA)为患病的兄弟姐妹。所有三个基因测试均在单个活检样本上完成。




简单来说,如果你的家庭有一位孩子有严重地中海贫血需要长期输血的话,你可以靠Saviour Siblings 计划生下一位孩子,并和你哪位患有地中海贫血的孩子的组织(HLA)匹配。等到Saviour Siblings 出世那一天,将他的脐带血输注给患病的兄弟/姐妹之后,他就可以以恢复正常的血细胞形成。以后不需要再输血过日子。



SAVIOUR SIBLING PROGRAMME (SSP) A New Lifeline – A Brand New Hope 
献给你来自Alpha 团队


想了解更多关于Saviour Siblings 疗程欢迎联络: http://www.wasap.my/60172552022


English version : http://blessingivf.blogspot.com/2018/08/how-to-save-your-thalassaemia-children.html?m=1

How to Save Your thalassaemia Children with SAVIOUR SIBLING PROGRAMME

SAVIOUR SIBLING PROGRAMME (SSP) A New Lifeline – A Brand New Hope 



Couples with autosomal dominant or recessive disorders have a significant chance of conceiving a pregnancy that has serious genetic consequences. Beta thalassaemia is one such disorder that is endemic in Malaysia and Southeast Asia.

Thalassaemia, in general, constitutes a public health problem in Malaysia. It is estimated that 350 babies are born each year in this country with blood transfusion dependent thalassaemia major. This number will cumulatively increase each year posing enormous social and economic hardships not only to patients and families but also to the government in ensuring optimal care for the existing population of thalassaemia major.


Most of the thalassaemia major patients succumb to a miserable, depressing and painful existence. Their lives are centred around the hospital environments. Regular blood transfusion, transfusion transmitted illnesses, iron overload, general debility and ill-health mar their lives. Loss of education, employment, depression and despair add to their miseries.



Haematopoietic Stem Cell Transplantation (HSCT) from a healthy HLA-compatible marrow donor or cord blood, preferably from a sibling, maybe the best treatment option or the only potential cure for patients with beta-thalassaemia to restore normal blood cell formation (haematopoiesis). Many patients remain unable to receive this treatment because of the difficulty of finding an HLA-matching donor within the immediate and extended family. Thus, patients with nonsibling donors and patient without donors may benefit from Saviour Sibling Program (SSP).


Saviour Siblings are children who are born through in-vitro fertilisation whose tissue (HSC from the cord blood) will be donated so that a brother or sister will be saved from the life-threatening genetic disorder.

Moving beyond routine preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic testing for mutations (PGT-M), Alpha Fertility Centre now offers pre-implantation genetic testing for HLA (PGT-HLA), to help parents conceive a child who is a tissue (HLA) match with their older sibling. During the birth of the saviour sibling, the umbilical cord blood which is rich in stem cells (otherwise considered a waste material) is harvested and infused to the moribund child to restore normal blood cell formation.

Alpha Fertility Centre is the first and only IVF centre in Malaysia that offers NGS-based high-resolution HLA genotyping on embryonic biopsies to select embryos that are chromosomally healthy (PGT-A), disease-free (PGT-M) and HLA matching (PGT-HLA) for the sick sibling. All three genetic tests are done on a single biopsy sample





Article sharing from Alpha Fertility Website


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