Table 1 Description of WAS/XLT patients... | American Society of Hematology

Table 1

Description of WAS/XLT patients

Patient	Age (y)	WAS mutation	WAS grade¹⁹	Splenectomy (y)	Baseline platelet count (10⁹/L)	Baseline MPV (fL)	Treatment with eltrombopag
1*	0.5	c.172-176del	4	—	37	7.9	—
2*	8	c.134C>T	2	+ (2004)	94	5.3	—
3*	6	c.206C>A	2	—	102	6.5	—
4*	4	c.122_124del	2	—	26	6.3	—
5*	13	c.257G>A	2	+ (2005)	145	6.7	—
6*	26	c.256C>T	3	—	19	8.1	+
7*	6	c.593+5G>A	3	—	16	6.2	+
8*	2	c.862A>T	4	—	44	5.2	+
9*	1.6	c. 539+5G>A	2	—	20	9.0	+
10	12	c.1213_1214insG	4	+ (2011)	9	6.2	+
11	7	c.194G>A	2	—	15	7.7	+
12†	5	p.Val332Ala	2	—	14	6.2	+
13	19	p.Glu133Gln	3	—	13	9.5	+

Patient	Age (y)	WAS mutation	WAS grade¹⁹	Splenectomy (y)	Baseline platelet count (10⁹/L)	Baseline MPV (fL)	Treatment with eltrombopag
1*	0.5	c.172-176del	4	—	37	7.9	—
2*	8	c.134C>T	2	+ (2004)	94	5.3	—
3*	6	c.206C>A	2	—	102	6.5	—
4*	4	c.122_124del	2	—	26	6.3	—
5*	13	c.257G>A	2	+ (2005)	145	6.7	—
6*	26	c.256C>T	3	—	19	8.1	+
7*	6	c.593+5G>A	3	—	16	6.2	+
8*	2	c.862A>T	4	—	44	5.2	+
9*	1.6	c. 539+5G>A	2	—	20	9.0	+
10	12	c.1213_1214insG	4	+ (2011)	9	6.2	+
11	7	c.194G>A	2	—	15	7.7	+
12†	5	p.Val332Ala	2	—	14	6.2	+
13	19	p.Glu133Gln	3	—	13	9.5	+

Platelet activation measured by flow cytometry. (Patient #8 had platelet function assessed only prior to treatment with eltrombopag).

†

Mutation was identified in WAS gene in patient #12 and predicted to cause XLT. However, the patient’s mother was also found to be homozygous for this mutation. Both the patient and the mother were shown to have reduced WASP expression and complete exome sequencing is in progress.

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