[HTML][HTML] Hemophilia a

BA Konkle - 2017 - europepmc.org
Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in
prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent …

[HTML][HTML] Functional correction of large factor VIII gene chromosomal inversions in hemophilia A patient-derived iPSCs using CRISPR-Cas9

CY Park, DH Kim, JS Son, JJ Sung, J Lee, S Bae… - Cell stem cell, 2015 - cell.com
Hemophilia A is an X-linked genetic disorder caused by mutations in the F8 gene, which
encodes the blood coagulation factor VIII. Almost half of all severe hemophilia A cases result …

Inhibitors of factor VIII in black patients with hemophilia

KR Viel, A Ameri, TC Abshire, RV Iyer… - … England Journal of …, 2009 - Mass Medical Soc
Background Black patients with hemophilia A (factor VIII deficiency) are twice as likely as
white patients to produce inhibitors against factor VIII proteins given as replacement therapy …

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative

JM Johnsen, SN Fletcher, H Huston… - Blood …, 2017 - ashpublications.org
Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a
collaborative project established to genotype and study hemophilia. Patients were enrolled …

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity

CH Miller, J Benson, D Ellingsen, J Driggers… - …, 2012 - Wiley Online Library
Both genetic and treatment‐related risk factors contribute to the development of inhibitors in
haemophilia. An inhibitor surveillance system piloted at 12 US sites has the goal of …

[HTML][HTML] Developing a new generation of tests for genotyping hemophilia‐causative rearrangements involving int22h and int1h hotspots in the factor VIII gene

LC Rossetti, CP Radic, IB Larripa… - Journal of Thrombosis and …, 2008 - Elsevier
Background: Inversions of F8‐intron 22 (Inv22) and F8‐intron 1 (Inv1) are responsible for 45–
50% of severe hemophilia A cases. Objective: In order to improve the molecular diagnosis of …

Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR

LC Rossetti, CP Radic, MM Abelleyro… - International journal of …, 2011 - mdpi.com
The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated
rearrangement, found in about one half of patients with severe hemophilia A worldwide. The …

Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers

I Hudecova, P Jiang, J Davies, YMD Lo… - Blood, The Journal …, 2017 - ashpublications.org
Direct detection of F8 and F9 sequence variants in maternal plasma of hemophilia carriers
has been demonstrated by microfluidics digital PCR. Noninvasive prenatal assessment of …

Haemophilia A mutations in the UK: results of screening one‐third of the population

PM Green, RD Bagnall, NH Waseem… - British journal of …, 2008 - Wiley Online Library
One‐third of the UK haemophilia A population was screened to establish a national
database of mutations and pedigrees and advance knowledge of the disease. The following …

[HTML][HTML] In non‐severe hemophilia A the risk of inhibitor after intensive factor treatment is greater in older patients: a case–control study

CL Kempton, JM Soucie, CH Miller, C Hooper… - Journal of Thrombosis …, 2010 - Elsevier
Background: Twenty‐five percent of new anti‐factor VIII (FVIII) antibodies (inhibitors) that
complicate hemophilia A occur in those with mild and moderate disease. Although intensive …