PMID- 10554831
OWN - NLM
STAT- MEDLINE
DCOM- 19991130
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 105
IP  - 4
DP  - 1999 Jun
TI  - Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case
      of mild haemophilia associated with His1954-->Leu substitution in the factor VIII
      A3 domain.
PG  - 1123-6
AB  - In some families with mild haemophilia higher results are obtained for factor
      VIII activity (FVII:C) determined by one-stage assay than by two-stage or
      chromogenic assays. Amino-acid substitutions in the A1, A2 and A3 domains of
      factor VIII have been described in affected individuals with this phenotype. We
      describe a case of mild haemophilia A in which FVIII:C measured by one-stage
      assay was normal at 106%. However, FVIII:C levels measured by two-stage and
      chromogenic assays were 18% and 35% respectively. DNA analysis revealed a novel
      mutation in the A3 domain of factor VIII, His1954-->Leu. In a molecular model of 
      the FVIII A domains, His1954 is placed in close proximity to two other mutations 
      that have previously been shown also to be associated with one-stage/two-stage
      discrepancies. In this patient the diagnosis of haemophilia A would be missed if 
      only the one-stage assay was used.
FAU - Keeling, D M
AU  - Keeling DM
AD  - Oxford Haemophilia Centre, The Churchill Hospital, UK.
FAU - Sukhu, K
AU  - Sukhu K
FAU - Kemball-Cook, G
AU  - Kemball-Cook G
FAU - Waseem, N
AU  - Waseem N
FAU - Bagnall, R
AU  - Bagnall R
FAU - Lloyd, J V
AU  - Lloyd JV
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 9001-27-8 (Factor VIII)
SB  - IM
MH  - Amino Acid Substitution/*genetics
MH  - Enzyme-Linked Immunosorbent Assay
MH  - Factor VIII/*genetics
MH  - Fluorescent Antibody Technique
MH  - Hemophilia A/*diagnosis/genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/*genetics
EDAT- 1999/11/11 00:00
MHDA- 1999/11/11 00:01
CRDT- 1999/11/11 00:00
PHST- 1999/11/11 00:00 [pubmed]
PHST- 1999/11/11 00:01 [medline]
PHST- 1999/11/11 00:00 [entrez]
AID - 10.1046/j.1365-2141.1999.01460.x [doi]
PST - ppublish
SO  - Br J Haematol. 1999 Jun;105(4):1123-6. doi: 10.1046/j.1365-2141.1999.01460.x.