Summary
Twenty two patients (12 males and 10 females) from all over Israel fulfilled the ‘Criteria
for establishing the diagnosis of Glanzmann’s thrombasthenia. All have been observed
to have a severe bleeding tendency since infancy or early childhood. In 8 out of 10
adult patients (7 females and 3 males) the bleeding manifestations have persisted
over the years. In 2 adult patients major surgery was performed under platelet transfusions
which appeared to prevent excessive bleeding. Pedigree analysis was possible for 21
patients who belong to 13 unrelated kindreds. Twelve kindreds are Jewish and one is
Arab. Eleven of the 12 Jewish kindreds belong to the Iraqi Jewish community. Analysis
of 16 sibships disclosed a corrected segregation ratio of 0.2, which is compatible
with an autosomal recessive mode of inheritance. No bleeding manifestation whatsoever
were observed in 30 obligatory carriers of thrombasthenia, and the haemostatic functions
tested in 12 of them were entirely normal.
