Abstract
Hemophilia B Leyden is characterized by low levels of factor IX antigen and activity before the age of 15, whereas after puberty factor IX levels rise at a rate of about 5% per year. A single substitution (-A→T) at position -20 was identified in the putative promoter of the gene cloned from a patient with hemophilia B Leyden. This nucleotide change was confirmed in a second patient from the same pedigree and was also found in a patient from a second Dutch pedigree with the same hemophilic phenotype. The results indicate that the two Dutch kindreds are related and point to the functional significance of the -20 position for the expression of the human factor IX gene.
Original language | English |
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Pages (from-to) | 1074-1076 |
Number of pages | 3 |
Journal | Blood |
Volume | 72 |
Issue number | 3 |
Publication status | Published - 1 Jan 1988 |