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Blood, Vol. 109, Issue 8, 3297-3299, April 15, 2007
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation
Blood Tubman et al.
109: 3297
Supplemental materials for: Tubman et al, Vol 109, Issue 8, 3297-3299
Files in this Data Supplement:
- Document 1. Human GATA1 sequencing primers and PCR conditions (PDF, 12.2 KB)
- Figure S1. Platelet and erythrocyte volume distribution histrograms (PDF, 163 KB) -
These ADVIA panels highlight the differences between platelet and erythrocyte parameters in healthy (left), heterozygous female (center), and hemizygous male (right) subjects. In the top row, note the rightward skewing of the volume distribution in both the carrier and affected subjects. A small population of large platelets is present in the heterozygous female. This group of large platelets is more numerous in the hemizygous male. The next 2 rows reveal rightward skewing of the hematocrit distribution and a higher proportion of small erythrocytes in the heterozygous female and hemizygous male. Finally, the volume/hematocrit graph in the bottom row shows an increased proportion of small, less dense erythrocytes.
- Figure S2. Platelet electron micrographs in X-linked gray platelet syndrome (PDF, 915 KB) -
(A) Platelets from subject III-Q showing a range of  -granule content, including absent (right), rare (top), and decreased with abnormal morphology (bottom left). Scale bar, 1 µm. Original magnification, × 21 600. (B) Giant platelet with decreased -granules from subject III-R. Scale bar, 1 µm. Original magnification, × 17 800. (C) Normal lymphocyte from subject III-R for comparison with panel B. Scale bar, 1 µm. Original magnification, × 17 800.
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