The accuracy of hemophilia A carrier detection during pregnancy has been determined using combined measurement of VIII:CAg and VIIIR:Ag. These immunoassays detect determinants that are sufficiently stable in plasma that the assays could be done on frozen samples that had been obtained when women were seen for antenatal diagnosis studies (carrier women) or for routine prenatal care (controls). A...

OBJECTIVES The aim of this study was to assess health-related quality of life in hemophilic children and adolescents, and describe the impact of health status on quality of life. METHODS The study included 45 patients with hemophilia A and B, their ages ranged from 4 to 16 years. Health-related quality of life was assessed by Hemophilia Quality of Life Questionnaire (Haemo-QOL) US-English lon...

OBJECTIVE This study aimed to investigate the association between HLA class II alleles and the occurrence of FVIIIinhibitor in Thai hemophilia A patients. MATERIAL AND METHODS The distribution of HLA-DRB1 alleles and DQB1 alleles in 57 Thai hemophilia A patientsand 36 blood donors as controls was determined using the PCR sequence-specific primer (PCR-SSP) method, and theassociation between th...

Bleeding symptoms and clotting activity vary among mutations that alter mRNA splicing of either the factor VIII or factor IX genes. We analyzed splicing mutations in both genes for changes in individual information (R(i), in bits) involving both donor or acceptor sites. Mutations with low or negative R(i) values (<2.4 bits) or significant changes in R(i) (DeltaR(i) > or = 7 bits) exhibited eith...

Mutation Screening of the Factor VIII Gene in Hemophilia A in Saudi Arabia: Two Novel Mutations and Genotype-Phenotype Correlation Faisal A Al-Allaf1,2,3#, Mohiuddin M Taher3#*, Zainularifeen Abduljaleel3, Mohammad Athar3, Faisal A Ba-hammam3, Munir Abdulla3, Abdellatif Bouazzaoui3, Halah Abalkhail4 and Tarek MA Owaidah4* 1Faculty of Medicine, Department of Medical Genetics, Umm Al-Qura Univers...

Spontaneous haemothoraxis is a very rare presenting manifestation in haemophilia, only four previous cases being recorded in the English literature. The clinical features and management of such a case by intercostal tube drainage in a previously unrecognized haemophiliac are described.

Many rapid advances have been made in the diagnosis and therapy of haemophilia. Nevertheless, the condition still poses problems and challenges (e.g., joint disease, transfusion-transmitted diseases, inhibitors, provision of care in developing countries, and education and cost issues). WHO and the World Federation of Hemophilia held a joint meeting in Geneva, on 21-23 March 1994, to discuss and...