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Haemophilia-A in Indonesia: Modified Method for Detecting Intron Inversion and in Silico Approach for Functional Analysis of Three Novel Variants in FVIII Gene

2026-07-14

Abstract excerpt

Introduction Haemophilia-A is a genetic disorder caused by genetic variations in the factor VIII (FVIII) gene on the q-arm of the X chromosome. Its prevalence reaches 80–85% of all haemophilia cases in the world. The intron-22 inversion is the most common type of genetic variation (50–75%) followed by intron-1 inversion (1–5%). However, the genetic variations of haemophilia-A in Indonesia are not yet extensively s...

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Literature Corpus work: 68d2a713-bbc1-5bce-b0dd-c7b96b238bef
DOI: 10.12688/f1000research.172839.1

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