Coinheritance of severe von Willebrand disease with Glanzmann thrombasthenia.
A 35-years old male patient presented severe bleeding was diagnosed to have type 3 von Willebrand disease (VWD) and carrier for Glanzmann thrombasthenia (GT). Propositus and family members were studied through basic coagulation tests and genomic DNA analysis. Two offspring of the family were diagnosed to have GT through platelet aggregation along with VWD carrier. The patient with VWD was found positive for homozygous truncating mutation R1659X in VWF gene, and all offspring were heterozygous carriers of null allele. Hence, propositus was a carrier of GT with severe type 3 VWD and wife was a carrier of GT. Thus, it is concluded that there is importance of careful studies of patients even from nonconsanguineous families to exclude unusual coinheritance of congenital hemostatic disorders. If single replacement therapy in patient not responding well then probably co-expression of coagulopathies required and multiple replacement therapy should be given according to clinical and laboratory features.
Department of Hematology, IRCH Building, 1st Floor, All India Institute of Medical Sciences (AMS), New Delhi, India.
Firdos
F
Ahmad
Meganathan
M
Kannan
Kamal
K
Kishor
Renu
R
Saxena
D000328:Adult; D002648:Child; D005260:Female; D006470:Hemorrhage / Q000235:genetics; D006801:Humans; D008297:Male; D010974:Platelet Aggregation; D013915:Thrombasthenia / Q000097:blood / Q000150:complications / Q000235:genetics*; D014842:von Willebrand Diseases / Q000097:blood / Q000150:complications / Q000235:genetics*