This is the first published report documenting the successful use of intrauterine infusion of factor VIII (FVIII) in order to reduce the risk of intracranial haemorrhage in a foetus with documented haemophilia A. This approach provides another option for management of newborns with documented coagulation factor deficiency. The subsequent development of an inhibitor directed against FVIII is believed to be related to exposure to exogenous FVIII in the presence of an inversion mutation and not to the intrauterine procedure.
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http://dx.doi.org/10.1046/j.1365-2516.2001.00546.x | DOI Listing |
Hematol Rep
November 2024
Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef 62521, Egypt.
: Hemophilia A is an X-linked recessive illness produced by a deficiency of coagulation factor VIII. This study aimed to evaluate serum vitamin D in hemophilic pediatric patients and its correlation with joint health and quality of life. : This case-control study was performed on ninety children under the age of 18 years old and separated into two groups: study group of 45 children with hemophilia A and control group of 45 healthy children at an outpatient pediatric hematology clinic at the Beni-Suef University hospitals.
View Article and Find Full Text PDFBMJ Open
December 2024
Department of Paediatrics, Nara Medical University, Kashihara, Japan.
Introduction: Emicizumab prophylaxis is approved for people of all ages with haemophilia A (HA) including infants and children. Although previous studies have demonstrated the efficacy and tolerability of emicizumab in infants with HA, real-world data on emicizumab use in infants are limited. The Haemophilia A in Infancy and NewbOrns: multi-instituional prospective observational study to assess the efficacy anD safety of Emicizumab (HINODE) study aims to evaluate the coagulation potential and safety of emicizumab prophylaxis in infants with congenital HA from birth to <12 months of age.
View Article and Find Full Text PDFAnn Hematol
December 2024
Shandong Blood Center, Shandong Hemophilia Treatment Center, Jinan, China.
Hemophilia A (HA) is an X-chromosome-linked recessive genetic disorder. Female carriers may have bleeding symptoms, but rarely have moderate or severe disease. We identified a female patient with moderate HA by pedigree tracking and genetic testing in a HA family involving consanguineous marriage.
View Article and Find Full Text PDFOchsner J
January 2024
Department of Hematology and Hematopoietic Cell Transplantation, City of Hope National Medical Center, Irvine, CA.
Prolongation of the activated partial thromboplastin time (aPTT) may signify an intrinsic factor deficiency or the presence of an inhibitor of coagulation, potentially placing a patient at increased risk for bleeding. However, a contact factor (ie, factor XII, prekallikrein, and high molecular weight kininogen) deficiency, which may also cause a prolonged aPTT, is not associated with clinical bleeding. A 71-year-old female had an isolated prolonged aPTT discovered during preoperative laboratory testing.
View Article and Find Full Text PDFPediatr Investig
December 2024
Hematology Department, Hemophilia Comprehensive Care Center, Hematology Center, Beijing Key Laboratory of Pediatric Hematology-Oncology, Key Laboratory of Major Diseases in Children, National Center for Children's Health National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Children's Hospital, Capital Medical University Beijing China.
Importance: Emicizumab (EMI) is efficacious and safe for hemophilia A (HA) prophylaxis. However, its high cost poses a challenge in China.
Objective: To explore the possibility of using reduced-dosage EMI in Chinese HA children.
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