Hemophilias are rare bleeding disorders, usually inherited, and (as they are X-linked diseases) only occurring in males. There are two types of hemophilias: hemophilia A (clotting factor VIII deficiency) and hemophilia B (clotting factor IX deficiency). The incidence of hemophilia A is 4–6 ...
A Chromosomal Female With Hemophilia A An eight year old female is presented with hemophilia A with hemorrhagic symptoms since three months of age. Family studies revealed sex linked transmissio... WJ Mellman,IJ Wolman,HA Wurzel,... - 《Blood》 被引量: 32发表: 1961年 HindIII polymorphism ...
The transmission is sex-linked, the disease being manifested only in males, while it is transmitted through females. There is no direct transmission from a person with hemophilia to his son. People with hemophilia transmit the 展开 关键词:...
Catalytic activity of antibodies against factor VIII in patients with hemophilia A Hemophilia A is an X chromosome-linked recessive disorder resulting in defective or deficient factor VIII (FVIII) molecules, which, in its severe form, is ... S Lacroix-Desmazes,A Moreau,Sooryanarayana,... - 《...
Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A BACKGROUND AND OBJECTIVES: Hemophilia A (HA), the deficiency of coagulation factor VIII (FVIII), is the most common, sex-linked inherited bleeding disorder... H Andrikovics,I Klei...
The paper discusses a case of 31-year-old patient with haemophilia A with the multiple vascular changes on the scrotum. Haemophilia is hereditary genetic disorder and is also the genetic plasma's diathesis. It is the recessive sex-linked... T Kupski 被引量: 0发表: 2012年 A case of adeno...
Prevalence and determinants of rapid eye movement sleep behavior disorder in the general population REM sleep behavior disorder (RBD) is a parasomnia associated with neurodegenerative synucleinopathies. Its prevalence is largely unknown. This study determ... J Haba-Rubio,J Haba-Rubio,B Frauscher,.....
The X-linked recessive disorder hemophilia A confers a 50% probability that a female carrier's daughter will herself be a carrier. Family history is negative in 30% of new diagnoses because of the factor VIII (FVIII) gene's high rate of ... Yee,D.L. - 《Journal of Pediatrics》 被引...
Hemophilia B Leyden is an X chromosome-linked bleeding disorder characterized by an altered developmental expression of blood coagulation factor IX. This form of hemophilia B has been found to be associated with a variety of single point... MJ Reijnen,K, Peerlinck,D, Maasdam,... - 《Blood》...
Hemophilia is a bleeding disorder with X-linked inheritance. Current prenatal diagnostic methods for hemophilia are invasive and pose a risk to the fetus. ... NBY Tsui,RA Kadir,KCA Chan,... - 《Blood》 被引量: 327发表: 2011年 A new polymorphism in the factor VIII gene for prenatal diag...