Abstract
Results In 221 cycles from 138 patients (104 cycles requiring HLA matching), 90.5% had embryo(s) biopsied for genetic testing. There were 119 embryo transfers for thalassemia (76) and thalassemia-HLA cases (43), respectively, resulting in overall clinical pregnancy rates of 54.6%, implantation rates of 45.7%, and live birth rates of 44.1%. Our dataset included fifteen PGD-HLA live births with successful HSCT in twelve affected siblings, 67% using umbilical cord blood stem cells (UCBSC) as the only SC source. Conclusions We report favorable thalassemia PGD and PGD-HLA laboratory and clinical outcomes from a single center. The ultimate success in PGD-HLA is of course the cure of a thalassemia-affected sibling by HSCT. Our PGD-HLA HSCT series is the first and largest performed entirely in Asia with twelve successful and two pending cures and predominant UCBSC use.
Highlights
Thalassemia is the most common monogenic disease worldwide [1]
Cure is only possible by hematopoietic stem cell transplantation (HSCT) with stem cells from umbilical cord blood (UCB), peripheral blood (PB), or bone marrow (BM) from a human leukocyte antigen- (HLA-) matched donor [1]
The present retrospective analysis presents the outcomes of a decade of preimplantation genetic diagnosis (PGD) and PGD-HLA diagnostic and clinical services for α- and β-thalassemia in 138 consecutive patients (221 stimulation cycles) in a single center in Bangkok, Thailand, Asia
Summary
Thalassemia is the most common monogenic disease worldwide [1]. Several clinical forms of α-thalassemia and β-thalassemia have been described and are considered a public health issue [1]. An estimated 1.7% of the world’s population are heterozygous for α- or β-globin variants, and a minimum of 0.44 per 1000 births are affected by thalassemia, with the prevalence higher in the tropical and subtropical regions of the world as carriers or mild forms of thalassemia offer some protection from malaria [1, 2]. This includes Southeast Asia, where 0.66 per 1000 conceptions have been conservatively estimated to be affected by thalassemia [3,4,5,6]. Our dataset included fifteen PGD-HLA live births with successful HSCT in twelve affected siblings, 67% using umbilical cord blood stem cells (UCBSC) as the only SC source. Our PGD-HLA HSCT series is the first and largest performed entirely in Asia with twelve successful and two pending cures and predominant UCBSC use
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
