Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia

• Hoofdauteurs: Ani Melani Maskoen (Auteur), Nurul Setia Rahayu (Auteur), Bremmy Laksono (Auteur), Azzania Fibriani (Auteur), Willyanti Soewondo (Auteur), Johanes C. Mose (Auteur), Edhyana Sahiratmadja (Auteur), Ramdan Panigoro (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

BackgroundThalassemia is a monogenic, autosomal recessive, inherited disorder of the red blood cells caused by mutations or deletions in the globin gene. Approximately 6-10% of the Indonesian population carries the β-globin gene mutation; however, premarital screening is rarely conducted, and antena...