Table 1. Individuals with transient... | American Society of Hematology

Table 1.

Individuals with transient myeloproliferative disorder have GATA1 mutations

Patient	Sex	Age, days	Trisomy 21	Hepatomegaly	WBC count, in PB	Blasts,* %	Mutation	Final GATA-1 residue†
TMD-1	Male	3	C	yes	116 400	55	159-160ins20	Ala53
TMD-2	Female	13	M	no	11 000	25	174-175ins14	Ala57
TMD-3	Male	1	C	no	62 300	62	127-128ins1	Asp42
TMD-4	Male	2	C	yes	40 600	26	173-174ins16	Ala58
TMD-5	Male	3	C	yes	164 100	68	146-180del	Thr48
TMD-6	Male	4	C	no	47 200	49	170-171ins14	Ala57
TMD-7	Male	0	C	yes	34 400	64	205-218del	Ala68

Patient	Sex	Age, days	Trisomy 21	Hepatomegaly	WBC count, in PB	Blasts,* %	Mutation	Final GATA-1 residue†
TMD-1	Male	3	C	yes	116 400	55	159-160ins20	Ala53
TMD-2	Female	13	M	no	11 000	25	174-175ins14	Ala57
TMD-3	Male	1	C	no	62 300	62	127-128ins1	Asp42
TMD-4	Male	2	C	yes	40 600	26	173-174ins16	Ala58
TMD-5	Male	3	C	yes	164 100	68	146-180del	Thr48
TMD-6	Male	4	C	no	47 200	49	170-171ins14	Ala57
TMD-7	Male	0	C	yes	34 400	64	205-218del	Ala68

WBC indicates white blood cell; PB, peripheral blood; C, constitutional trisomy 21; M, mosaic trisomy 21.

Percentage of blasts in the peripheral blood.

The final GATA-1 residue encoded in exon 2 prior to the frameshift.