Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile

Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history o...

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Veröffentlicht in:	Molecular medicine reports 2014-02, Vol.9 (2), p.466-470
Hauptverfasser:	QIAO, SHU-KAI, REN, HAN-YUN, REN, JIN-HAI, GUO, XIAO-NAN
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Anemia Antibodies Antigens Bleeding Blood Blood platelets Blood transfusions Coagulation factors Congenital diseases Deoxyribonucleic acid Disease DNA F8 factor VIII Factor VIII - genetics Factor VIII deficiency Family medical history Female Females Gene mutations Genetic aspects Health aspects Hemophilia hemophilia A Hemophilia A - genetics Hemophilia A - pathology Heterozygote Humans Identification and classification Immunoglobulin G Immunoglobulins Intrauterine devices IUD Laboratories Missense mutation Mutation Mutation, Missense Patients Pedigree Phenotype Physiological aspects Plasma Point mutation Proteins Risk factors Surgery Uterus Von Willebrand factor Zebrafish
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