Peripheral blood lymphocyte populations and subpopulations of 154 hemophiliacs treated with factor VIII concentrates were studied. The patients had significantly increased percentages of leukocytes and lymphocytes and also absolute numbers of the lymphocyte populations in cells/mm3. The increases in cell counts in the two major T cell subpopulations (T4 and T8) were unbalanced, leading to a significant decrease in the T4/T8 ratio. There was no correlation between the T4/T8 ratio and the consumption of factor VIII during the year prior to the study. The values of these T cell subpopulations and of the T4/T8 ratio significantly correlated with the patient's age. There were no analytical or clinical data for any of the patients indicating AIDS.

Adolescent↗

PubMedDate not supplied

Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene.

Intron 40 of the human von Willebrand factor gene contains a region with variable-number tandem repeats (VNTR), type (ATCT)n, showing length polymorphism. In order to carry out family studies of von Willebrand's disease, we performed PCR procedures to analyze 3 previously described microsatellites from that region, both in normal individuals and in von Willebrand disease patients. Three pairs of primers were used to amplify independently nucleotides 1890-1991 (VNTR 1), 2215-2380 (VNTR 2) and 1640-1794 (VNTR 3) from intron 40. The observed heterozygosities (0.75, 0.73 and 0.86 for VNTRs 1, 2 and 3, respectively) were in good agreement with the expected heterozygosities derived from the allele frequencies (0.70, 0.73 and 0.79, respectively). Furthermore, the combination of the 3 VNTRs showed 96% of heterozygosity, which correspond with the 98% expected value under linkage equilibrium. Therefore, our conclusion is that the use of these 3 markers, especially VNTR 3, constitutes a rapid and reliable method for performing segregation studies in von Willebrand disease families.

Alleles↗