1 The molecular basis of haemophilia A and B
F Giannelli, PM Green - Bailliere's clinical haematology, 1996 - Elsevier
Most families with haemophilia A or B carry gene defects of independent origin.
Haemophilia B is mostly due to small changes in the factor IX gene affecting either its
transcription, mRNA maturation, mRNA translation or the fine structure of factor IX. Only 2–
3% of patients show gross deletions or rearrangements. The great variety of missense
mutations reported to cause haemophilia B indicates that this multidomain protein is highly
constrained. Less is known about the factor VIII gene as fully efficient mutation detection …
Haemophilia B is mostly due to small changes in the factor IX gene affecting either its
transcription, mRNA maturation, mRNA translation or the fine structure of factor IX. Only 2–
3% of patients show gross deletions or rearrangements. The great variety of missense
mutations reported to cause haemophilia B indicates that this multidomain protein is highly
constrained. Less is known about the factor VIII gene as fully efficient mutation detection …
