EHL-FIX in haemophilia B carriers with FIX deficiency.

Marlière, Camille;Maindiaux, Laure;Lambert, Catherine;Hermans, Cédric
(2020) Haemophilia (Print) — Vol. 26, n° 2, p. e38-e40 (2020)

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Abstract
Haemophilia is an inherited bleeding disorder characterized by a deficiency in coagulation factor VIII (FVIII) in haemophilia A (HA) or of factor IX (FIX) in haemophilia B (HB). Women carrying haemophilia typically display a clotting factor level close to 0.5 IU/mL, with only one chromosome affected, resulting in either no or only mild bleeding symptoms.1 However, there is considerable variability among individuals due to a variable lyonization degree of the unaffected X chromosome.1, 2 Therefore, a proportion of haemophilia carriers exhibit a clotting factor deficiency. They should be referred to as “symptomatic carriers” (HA or HB carrier with a bleeding phenotype and FVIII/FIX > 40%) or “women and girls with mild/moderate/severe haemophilia” depending on their factor levels. In particular, carriers of severe and moderate HB have been shown to exhibit a higher risk of a clotting factor deficiency than carriers of severe and moderate HA [...]
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Marlière, C., Maindiaux, L., Lambert, C., & Hermans, C. (2020). EHL-FIX in haemophilia B carriers with FIX deficiency. Haemophilia (Print), 26(2), e38-e40. https://doi.org/10.1111/hae.13906 (Original work published 2020)