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GENATLAS PHENOTYPE

last update : 02-11-2020

Symbol	ASPR
Location	3p22.1
Name	sideroblastic anemia, pyridoxine-refractory
Corresponding gene	SLC25A38
Main clinical features	marked microcytic hypochromic anemia and hepatosplenomegaly with presence of ringed sideroblasts—bone marrow erythroid precursors addition of pyridoxal phosphate had no clinical benefit myelodysplastic syndrome characterized mainly by anemia attributable to ineffective erythropoiesis severe disease: patients present in infancy with microcytic anemia, which soon becomes transfusion dependent (PMID: 26637696))
Genetic determination	autosomal recessive
Function/system disorder	hematology
Type	disease

Remark(s)

. more than 90% of these patients carry somatic mutations in SF3B1, a gene encoding a core component of the RNA splicing machinery (PMID: 26637696))