Hemophilia A

Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China

P. Sun, Ma, L., Diao, G., Li, C. Q., and Lin, F. Z., Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China, vol. 14, pp. 8229-8235, 2015.

Hemophilia A (HA) is an inherited X-linked bleeding disorder caused by mutations in the factor VIII gene. Prenatal detec­tion in female carriers from families with HA is important to reduce the number of HA patients. The purpose of this study was to detect carriers in families with HA from Sichuan, China, using linkage analysis and a direct genotyping method. A total of 18 HA families were studied.

Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population

S. H. Park, Chung, N., Lee, M. R., Yoo, S. K., and Choi, Y. M., Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population, vol. 11, pp. 1-9, 2012.

To determine the usefulness of MspI/int22h-1 (intron 22 homologous region-1) polymorphism of the factor VIII gene for molecular genetic diagnosis of hemophilia A in the Korean population, MspI/intron 22 and XbaI/intron 22 polymorphisms were analyzed in 101 unrelated Korean families with severe hemophilia A. The expected heterozygosity rates of MspI/int22h-1 and XbaI/int22h-1 polymorphisms were 49.5 and 43.6%, respectively; these polymorphisms were not in complete linkage disequilibrium.

Phenotypic correction and stable expression of factor VIII in hemophilia A mice by embryonic stem cell therapy

J. J. Wang, Kuang, Y., Zhang, L. L., Shen, C. L., Wang, L., Lu, S. Y., Lu, X. B., Fei, J., Gu, M. M., and Wang, Z. G., Phenotypic correction and stable expression of factor VIII in hemophilia A mice by embryonic stem cell therapy, vol. 12, pp. 1511-1521, 2013.

Hereditary deficiency of factor VIII (FVIII) leads to hemophilia A, a severe X-linked bleeding disorder. Current therapies include fixed-dose FVIII prophylaxis, factor replacement therapy, and most recently, gene therapy. Prophylaxis and FVIII replacement therapies are limited by incomplete efficacy, high cost, restricted availability, and development of neutralizing antibodies in chronically treated individuals. Limited success has been obtained in preclinical trials using gene therapy for the treatment of hemophilia. Therefore, new options for therapy for hemophilia A are needed.

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