Genetic analysis in a female manifesting haemophilia B.
A 5 year old female child presented with a psoas haematoma as the first manifestation of haemophilia B. Molecular genetic studies were performed to investigate the inheritance of the disorder and the mechanisms by which females may express the haemophilia B phenotype are discussed.
Palmer
S
S
Department of Haematology, Bristol Royal Infirmary, UK.
Standen
G R
GR
Yates
P
P
Oakhill
A
A
D002675:Child, Preschool; D004247:DNA / Q000032:analysis*; D005260:Female; D006406:Hematoma / Q000209:etiology; D002836:Hemophilia B / Q000150:complications / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D017354:Point Mutation; D016658:Psoas Muscles
D004247:DNA