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Wide spectrum of F9 variants in hemophilia B families from the Portuguese popul...
Moreira, Isabel; Diniz, Maria João; Tavares, Alice; Morais, Sara; Freitas, B.; Araújo, F.; Gago, T.; Antunes, EM; Catarino, C.; Campos, M.; Almeida, T.Introduction: Hemophilia B is an X-linked bleeding disorder caused by molecular defects in the Factor IX gene (F9), leading to either deficiency or functional abnormality of Factor IX. Actual data indicate a high heterogeneity of variants in F9. Over 1000 different variants have been reported, including pathogenic single nucleotide variants (SNPs), indels and complex variants. Materials and Methods: 86 index pa...
Molecular diagnosis of haemophilia A: four novel variants identified in five pa...
Certã, Rita; Moreira, Isabel; Antunes, Ema; Cruz, Eugénia; Diniz, Maria João; Kjollerstrom, Paula; Morais, Sara; Gonçalves, JoãoAims/Context: Haemophilia A (HMA) is an X-linked bleeding disorder caused by reduced levels of the coagulation factor VIII (FVIII) due to alterations in the F8 gene. Decreased levels of FVIII activity leads to a loss of clotting activity and to bleeding (predominantly into joins, muscles and inner organs). The severity of HMA ranges from mild (5-30% activity) to moderate (2-5% activity) to severe (<1% activity)...