F8 Gene Splice Donor Mutation (c.1271+1G>A) in Individual with Mild Hemophilia A in Indonesia: A Case Study
Penulis/Author
Indra Lesmana, S.Si., M.Sc. (3); Dr.dr. Usi Sukorini, Sp.PK(K)., M.Kes. (4); Prof. Dr. Niken Satuti Nur Handayani, M.Sc. (5)
Tanggal/Date
30 2024
Kata Kunci/Keyword
Abstrak/Abstract
Introduction: Hemophilia A is a bleeding disorder caused by a deficiency of coagulation factor VIII. Hemophilia A is an X-linked recessive disorder. Depending on the level of blood coagulation factor VIII, hemophilia severity is classified as mild (5-40%), moderate (1-5%), or severe (<1>A) in one patient. This mutation can cause the occurrence of cryptic splice donor sites. Cryptic splice donor site prediction was carried out using the splice donor prediction tool available on the NNSPLICE website. The appearance of cryptic splice donor sites can lead to the formation of out-of-frame proteins.
Conclusions: The F8 gene mutation causing hemophilia A was detected using long-read sequencing and the next-generation sequencing (NGS) technique. The type of mutation identified is a splice donor site mutation, specifically the variant c.1271+1G>A, in sample code HM13.
