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Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
2157 14069 Ensembl ENSG00000185010 ENSMUSG00000031196 UniProt P00451 Q06194 RefSeq (mRNA) NM_000132 NM_019863 NM_001161373 NM_001161374 NM_007977 RefSeq (protein) NP_000123 NP_063916 NP_001154845 NP_001154846 NP_032003 Location (UCSC) Chr X: 154.84 – 155.03 Mb Chr X: 74.22 – 74.43 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor VIII (Factor VIII, FVIII, also ...
Joint capsule. Haemophilia A's phenotype has a quite wide range of symptoms encompassing both internal and external bleeding episodes. Individuals with more severe haemophilia tend to experience more intense and frequent bleeding, whereas those with mild haemophilia typically exhibit milder symptoms unless subjected to surgical procedures or significant trauma.
"Hemophilia: The Royal Disease" Yelena Aronova-Tiuntseva and Clyde Freeman Herreid; Family tree of Queen Victoria and her descendants; Haemophilia in Queen Victoria's Descendants. Archived 2006-11-18 at the Wayback Machine; Victor A. McKusick (August 1965). "The Royal Hemophilia". Scientific American. pp. 88– 95
The passage of homozygous alleles through an inbred pedigree. Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. [1]
Coagulation factor concentrates are used to treat hemophilia, to reverse the effects of anticoagulants, and to treat bleeding in people with impaired coagulation factor synthesis or increased consumption. Prothrombin complex concentrate, cryoprecipitate and fresh frozen plasma are commonly used coagulation factor products.
Women make up 51 percent of the U.S. population. And though we are by no means a monolith — in fact, we fall into every ethnic, socioeconomic, religious and ideological group — we have historically been underrepresented politically.
X chromosome. The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why males are affected in greater numbers. [9] [10] A change in the F9 gene, which makes blood clotting factor IX (9), causes haemophilia B. [11]
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