Evidence is developing that intracellular expression does occur with the common intron-22 inversion and thus it may be the single most important pharmacogenetically-relevant HA-causing mutation. These non-hemophilic structural differences are likely to be more important in patients with âpharmacogenetically relevantâ mutations, that is, F8 abnormalities that still allow most or all of the FVIII primary amino acid sequence to be expressed intracellularly. Thus, a given patient may receive a therapeutic FVIII replacement protein that differs from his endogenous FVIII structure not only at the mutation site but also at one or more additional sites. These haplotypic variants encode structurally distinct FVIII proteins of which only two are represented in the currently available recombinant FVIII concentrates. Howard TE Department of Pathology and Laboratory Medicine, Veterans Affairs Greater Los Angeles Healthcare System, Los Angeles, California, USA Wild-type Factor VIII (FVIII) gene (F8) variants, called haplotypes, are partially racially-restricted and may contribute to differences in inhibitor incidence across hemophilia A (HA) patient populations. Journal of Thrombosis and Haemostasis Wiley Such developments might reduce, but not eliminate inhibitor development, which is also strongly inï¬uenced by the composition of each The potential exists for developing additional recombinant and plasmaderived FVIII concentrates to match more of the target patient population.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. Archives
March 2023
Categories |