Towards zero Thalassemia growth: Premarital Screening VS Prenatal diagnostic or IVF?

Edhyana Sahiratmadja^1,2

¹ Department of Biomedical Sciences, Faculty of Medicine, Universitas Padjadjaran. Bandung, Indonesia

² Study Center of Clinical Genetic, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia

Abstract

During Covid-19 pandemic, a restricted mobility policy has been applied. Consequently, the lives of blood transfusion-dependent thalassemia major patients are on stake since the blood donors are very much reduced. Patients with thalassemia major, an autosomal recessive inherited red blood disorder due to globin gene mutation, need a regular blood transfusion. Therefore, more awareness on blood donations for thalassemia major patients has been raised massively, as well as awareness on thalassemia prevention. Indonesia, located in the thalassemia belt area, is harboring 6-10% thalassemia carriers. However, no national program yet for thalassemia screening. Furthermore, national survey on knowledge about anemia and thalassemia among young adult is poor.¹ With the advances in genetic studies, prenatal and preimplantation diagnostics for thalassemia have been well-developed. Here, we have explored a non-invasive prenatal diagnostic using fetal DNA taken from the maternal blood to detect β-globin gene mutation of the fetus by pyrosequencing. Interestingly, other new technique is in the horizon regarding preimplantation diagnostic during in vitro fertilization, leading to pregnancy termination, which is opposed to Catholic belief. Therefore, premarital thalassemia carrier screening might be the ideal way to plan a good family for better generation towards zero birth thalassemia babies.

Presented in the 17th AFCMA 2021.

References:

1 Sahiratmadja E, Raharja MB, Setiawati EP, Panigoro R.  Poor knowledge of anemia and sexually transmitted disease but better knowledge of HIV/AIDS among unmarried adolescents aged 15-24 years. Universa Medicina 2021;40(2):110-120