The “Normal” FVIII Level Trap in Females with Haemophilia
Wolfgang Miesbach, Professor of Medicine at Frankfurt University Hospital, posted on LinkedIn:
”The “Normal” FVIII Level Trap in Females with Haemophilia
For decades, we thought: if factors are normal, the patient is “just a carrier” and shouldn’t bleed. At ASH2025, Dr. Jill Johnsen and the 8CHECK program, with over 500 female,s just shattered that rule with data:
- 52% of genotype-positive females with excessive bleeding had FVIII levels ≥ 40%.
- Normal FVIII levels do NOT exclude excessive bleeding.
What This Means for Clinical Practice:
– FVIII is a poor predictor: High variability makes it an unreliable standalone marker for variant status in females.
– Genotyping is essential: It’s not just for “severe” cases. In this cohort, 62% of tested females had a clinically reportable F8 variant.
– Family History Matters: The yield for finding a variant drops significantly without family history (18.6% vs 67.5%), but positive results still occur.”
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