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We found a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletions with FGG c.1129+62_65 del AATA and FGG c.1299+4 del A on different alleles. The former was deep in intron 8 of FGG (IVS-8 deletion) and the latter in exon 9 of FGG (Ex-9 deletion), which is translated for the γ′-chain, but not the γA-chain. A Western blot analysis of plasma fibrinogen from...
We examined a 6-month-old girl with inherited fibrinogen abnormality and no history of bleeding or thrombosis. Routine coagulation screening tests showed a markedly low level of plasma fibrinogen determined by functional measurement and also a low level by antigenic measurement (functional/antigenic ratio=0.295), suggesting hypodysfibrinogenemia.DNA sequence analysis was performed, and γT305A fibrinogen...
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