Table II.

Mutations Identified in the Cohort of 60 Patients with Congenital Sideroblastic Anemia

Patient	Gender	Gene	Mutation	Exon	Codon change	Severity of anemiaa
1	M	ALAS2	547C>A	5	F165L	moderate
2	M	ALAS2	560C>T	5	R170C	severe
3	M	ALAS2	954T>Cb	7	V301Ab	moderate
4	M	ALAS2	1283C>T	9	R411C	moderate
5	M	ALAS2	1407G>A	9	R452H	mild
6	M	ALAS2	1407G>A	9	R452H	mild
7	Fc	ALAS2	1601C>Gb	10	R517Gb	moderate
8	M	ALAS2	1611C>T	10	P520L	moderate
9	F	PUS1	885C>T	3	R144W	severe
10	M	PUS1	917C>Tb	4	Q154Xb	moderate
11	F	mtDNA	2501 bp mtDNA delb	-	-	severe
12	M	mtDNA	4836 bp mtDNA delb	-	-	severe
13–24d	5M, 7F	SLC25A38	Multipleb	4–7	Multiple	severe

^aMild, Hb >10 g/dL; moderate, Hb 7–10 g/dL; severe Hb <7 g/dL;

^bNovel mutation;

^cHas marked skewing of X-chromosome inactivation;

^dThe details of these cases are presented in Reference 8