Biology of Heme in Mammalian Erythroid Cells and Related Disorders

Table 1

Genetic features of congenital sideroblastic anemias.

	Inheritance	Chromosome	Gene	Treatment
XLSA	X-linked	Xp11.21	ALAS2	Vitamin B6
XLSA/A	X-linked	Xp13.3	ABCB7	—
SA/GLRX5	Recessive	14q32.13	GLRX5	?
SA/SLC25A38	Recessive	3p22.1	SLC25A38	?
SA/STEAP3	?	2q14.2	STEAP3	—
PMPS	Maternal	Mitochondria	Mitochondrial	—
TRMA	Recessive	1q24.2	SLC19A2	Thiamine
MLASA/PUS1	Recessive	12q24.33	PUS1	—
MLASA/YARS2	Recessive	12p11.21	YARS2	—
SIFD/TRNT1	Recessive	3p26.2	TRNT1	—

XLSA: X-linked sideroblastic anemia; XLSA/A: X-linked sideroblastic anemia with ataxia; PMPS: Pearson Marrow Pancreas Syndrome; TRMA: thiamine-responsive megaloblastic anemia; MLASA: mitochondrial myopathy and sideroblastic anemia. SIFD: syndromic form of congenital sideroblastic anemia associated with B-cell immunodeficiency, periodic fevers, and developmental delay. Adopted and modified from [13, 14]. Sporadic cases are also observed.