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[Clinical and genetic analysis of a severe vWD pedigree]
1Shanghai Institute of Hemotology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025.
Objective:
To investigate clinical features and analyse defect gene transmission in a severe vWD pedigree.
Methods:
Phenotypes of a severe hemorrhagic pedigree including 26 family members of four generations were diagnosed with vWF multimer banding and ELISA. Defective gene transmission among the family members was investigated with a series of RFLP and VNTR loci within vWF gene.
Results:
For the proband, plasma vWF:Ag was less than 2%, and multimer banding was negative. Gene analysis showed that she carried 2 different defective vWF haplotypes from her parents. The family members carrying one of the defective haplotypes showed normal or slight decrease of vWF:Ag and normal multimer banding pattern.
Conclusion:
1. The proband could be regarded as a putative compound heterozygote of type 3 vWD. The defect vWF gene carried by heterozygote family members could be compensated by a normal allele. 2. DNA analysis based on polymorphism markers within vWF gene has practical values in genetic consulting of severe vWD pedigrees.