F8 Gene Splice Donor Mutation (c.1271+1G>A) in Individual with Mild Hemophilia A in Indonesia: A Case Study

نویسندگان
Suprianto, Suprianto ID 1
Sukorini, Usi ID 2
Kirana, Ni Gusti Ayu Galuh Candra ID 3
Lesmana, Indra ID 4
Handayani, Niken Satuti Nur ID 5

1 Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia

2 Department of Clinical Pathology and Laboratory Medicine, Universitas Gadjah Mada, Yogyakarta, Indonesia

3 Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia

4 Department of Tropical Biology, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia. - Laboratory of Genetics and Breeding, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia.

5 Department of Tropical Biology, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia. - Laboratory of Genetics and Breeding, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia.

doi
10.61186/ijbc.16.4.1
چکیده

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%). The absence of hemophilia A mutation studies in Indonesia makes this topic ...

کلیدواژه‌ها
Hemophilia A, F8 gene, Intron 8, Donor splice mutation, c.1271+1G