HLA typing in a new family with Fletcher factor deficiency.
In a nonrelated white family, the Fletcher factor level in the father was 0.41 U/ml and in the mother, 0.30 U/ml (controls, 0.75-1.25 U/ml). One sibling with recurrent epistaxis had a level of 0.012 U/ml, whereas the other without tendency to spontaneous bleeding had levels between 0.75 and 0.32 U/ml. This suggests autosomal recessive transmission with clinical symptoms when the defect is homozygous. HLA antigens were studied to determine whether characters of the histocompatibility system and this defect are linked: we determined that the gene(s) of the disease is (are) not shared on the HLA complex.
D000328:Adult; D001778:Blood Coagulation Disorders / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006650:Histocompatibility Testing; D006720:Homozygote; D006801:Humans; D007610:Kallikreins / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011288:Prekallikrein / Q000235:genetics*
D006680:HLA Antigens; D011288:Prekallikrein; D007610:Kallikreins