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GENATLAS PHENOTYPE

last update : 03-11-2015

Symbol	ASB
Location	Xp11.21
Name	anemia, sideroblastic
Other name(s)	anemia, sideroblastic, X-linked
Corresponding gene	ALAS2
Other symbol(s)	XLSA
Main clinical features	early onset with variable pyridoxine responsiveness, also late onset with constant pyridoxine responsiveness hypochromic microcytic anemia with 2 discrete populations of red blood cells, one microcytic and the other normocytic, marrow ringed sideroblasts, particularly prominent in the late erythroid precursors, and systemic iron overload secondary to chronic ineffective erythropoiesis severity of the disorder (neonatal to late onset) depends primarily on the amount of residual ALAS2 mitochondrial enzyme activity (PMID: 22740690))
Genetic determination	sex linked
Function/system disorder	hematology
Type	disease

Gene product

Name	aminolevulinate, delta-synthase 2, erythroid (ALAS2)

Remark(s)

exon 11-encoded ALAS2 mutations cause loss of binding to SUCLA2 and heme deficiency in XLSA patients (PMID: 22740690))