Management of haemophilia A with inhibitors: a regional cross‐talk

F Peyvandi, K Kavakli, A El‐Beshlawy… - Haemophilia, 2022 - Wiley Online Library
Introduction The development of inhibitors with factor VIII (FVIII) replacement therapy is one
of the most common and challenging complications of haemophilia A (HA) treatment …

Genotype hemophilia screening program identified 2 novel variants including a novel variant (c. 5816-2A> G) causing a pathogenic variant of the factor 8 gene

T Owaidah, S Bakr, N Al-Numair… - Clinical and Applied …, 2023 - journals.sagepub.com
Establishing a national screening program for hemophilia patients is highly encouraged by
the World Health Organization and the World Federation of Hemophilia. Hence, this study …

Diagnosis, treatment, and research status of rare diseases related to birth defects

H Zhao, C Du, G Yang, Y Wang - Intractable & Rare Diseases …, 2023 - jstage.jst.go.jp
Rare diseases are diseases that occur at low prevalence, and most of them are chronic and
serious diseases that are often life-threatening. Currently, there is no unified definition for …

[HTML][HTML] F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia …

V Labarque, ME Mancuso, M Kartal-Kaess… - Research and practice …, 2023 - Elsevier
Abstract Background Hemophilia A and B are caused by variants in the factor (F) VIII or FIX
gene. Selective reporting may influence the distribution of variants reported in genetic …

Genetic counseling: preconception, prenatal, and perinatal

A Milunsky, JM Milunsky - Genetic disorders and the fetus …, 2015 - Wiley Online Library
This chapter first explains the incidence or prevalence of congenital anomalies or genetic
disorders. Many factors influence efforts to accurately determine the incidence or prevalence …

Application of machine learning approaches for predicting hemophilia A severity

A Rawal, C Kidchob, J Ou, ZE Sauna - Journal of Thrombosis and …, 2024 - Elsevier
Abstract Background Hemophilia A (HA) is an X-linked congenital bleeding disorder, which
leads to deficiency of clotting factor (F) VIII. It mostly affects males, and females are …

[HTML][HTML] Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females

O Morris, M Morris, S Jobe, D Bhargava, JM Krueger… - Genes, 2024 - mdpi.com
Background: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and
thrombosis, with gene therapy approaches being available for pathogenic variants. Many …

[HTML][HTML] Mutational Profile in Romanian Patients with Hemophilia A

A Grigore, M Dragomir, OT Călugăru, D Jardan… - International Journal of …, 2024 - mdpi.com
Hemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the F8
gene, resulting in deficient or dysfunctional factor VIII (FVIII). This study aimed to …

F8 gene mutation spectrum in severe hemophilia A with inhibitors: A large cohort data analysis from a single center in China

J Sun, Z Li, K Huang, D Ai, G Li, X Xie… - … and Practice in …, 2022 - Wiley Online Library
Introduction Type of F8 gene mutation is the most important risk factor for inhibitor
development in people with severe hemophilia A. However, there are few large cohort …

[HTML][HTML] Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a …

S Sarmiento Doncel, RG Peláez, P Lapunzina… - Life, 2024 - mdpi.com
Hemophilia A is an X-linked disorder characterized by quantitative deficiency of coagulation
factor VIII (FVIII) caused by pathogenic variants in the factor 8 (F8) gene. Our study's primary …