GATA-1, G208S macrothrombocytes are deficient in talin: immunofluorescence studies.

Previous investigations from our laboratory identified the ultrastructural pathology and cytochemistry of macrothrombocytes (MTC) from patients with the X-linked, G208S varient of the GATA-1 mutation.A subsequent biochemical study of the MTC cytoskeletal proteins using polyacrylamide gel electrophoresis and western blot analysis revealed the MTC were deficient in the high-molecular weight, actin binding protein, talin. The present study has used immunofluorescent techniques to further characterize the talin deficiency.

Cytoskeletons of X-linked GATA-1, G208S macrothrombocytes are deficient in talin.

An X-linked mutation in the GATA-1 transcription factor, G208S, causes macrothrombocytopenia and serious bleeding problems in affected male family members. The unique ultrastructural pathology of their platelets was described previously. The present investigation has evaluated the cytoskeletal proteins of the GATA-1, G208S macrothrombocytes of two male patients by page gel electrophoresis and Western blot analysis.

Alpha-delta platelet storage pool deficiency in three generations.

Alpha-Delta platelet storage pool deficiency (alphadelta SPD) is a rare inherited bleeding disorder affecting both males and females, occurring in families, as well as sporadically. Patient platelets in most cases are moderately deficient in both alpha granules and dense bodies. Only one patient has been severely deficient in both organelles.