Diagnosis of Heterozygotes in Glanzmann’s Thrombasthenia

Summary

A study of a family with a propositus suffering from classical thrombasthenia type I has shown that the new immunochemical methods detect heterozygotes with high reliability. There was no overlapping between heterozygotes and normals, and the concentration of the glycoprotein II_b-III_a-complex is remarkably constant around 50–60% in the heterozygotes. Furthermore, heterozygotes as a group show an increased bleeding tendency.

Keywords

Thrombasthenia - Heterozygotes - Diagnosis - Laboratory - Clinical

• References

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