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Table 1 Comparison of XLSA where multiple female members in the same family were affected (1–3) to the case in this report (4)

From: X-linked sideroblastic anaemia in a female fetus: a case report and a literature review

Case

1

2

3

4

Age at diagnosis

61

42

32

In-Utero

Other family

Members affected

Mother

Mother

Mother

Mother and grandmother

ALAS2 mutation

R163H

R227C

Y365C

R163H

Pyridoxine responsive

No

No

Not known

No

Skewed X-inactivation

No

Not known

Not known

No

References

[15]

[9]

[12]