Combined factor VIII and IX deficiency in a family.
A family with combined deficiency of factor VIII and factor IX is reported. Family study showed that the father and his nephew had mild factor VIII deficiency with normal von Willebrand factor antigen and factor IX levels while his two sons had a reduced level of factor IX and normal factor VIII levels. His wife was found to have marginally reduced factor IX levels, whereas his daughter had reduced or normal levels of both factors VIII and IX. DNA analysis using the intra- and extragenic markers of factor VIII and IX genes showed that mother is a carrier of haemophilia B and the daughter is a carrier for both haemophilia A and B. Thus, the combined deficiency observed was due to a chance association of two distinct genetic defects.
Shetty
S
S
Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, India.
Ghosh
K
K
Parekh
S
S
Mohanty
D
D
D000328:Adult; D001780:Blood Coagulation Tests; D005192:Family Health; D006467:Hemophilia A / Q000097:blood / Q000235:genetics*; D002836:Hemophilia B / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length