ABSTRACT
This chapter discusses three types of coagulopathies. These are Hemophilia A (HA); Hemophilia B (HB); and Von Willebrand Disease (vWD). For each of the type, the causative factors and diagnostic methods are highlighted. HA is caused by defects in factor VIII (FVIII), accounting for about 85% of inherited coagulation disorders. The FVIII gene on chromosome Xq28 has been cloned and over 500 hemophilic FVIII genes have been studied so far. RFLP analysis is the method of choice at the present time for prenatal diagnosis and the detection of heterozygous carriers of HA. HB is caused by a diminished level or dysfunction of factor IX (FIX), and in at least one third of cases a specific point mutation accounts for the defective FIX circulating in the blood. REA can be used to define partial and complete gene deletions that account for the majority of HB mutations. PCR amplification with direct sequencing allows fast and precise characterization of FIX gene alterations.
