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A study of a female with congenital sideroblastic anemia
Author(s) -
Manabe Yutaka,
Seto Shiro,
Furusho Kenshi,
Aoki Yosuke
Publication year - 1982
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830120109
Subject(s) - sideroblastic anemia , medicine , anemia , pediatrics
A female infant with congenital refractory sideroblastic anemia is described. A market reduction of δ‐aminolevulinic acid (ALA) synthetase activity of erythroblasts was noticed with and without treatment of pyridoxal phosphate. Mitochondrial neutral protease activity of erythroblasts, which inactivates specifically the apo form of ALA synthetase, was normal and the sensitivity of apo form of ALA synthetase to the neutral protease was also normal. It was speculated that the reduction of ALA synthetase activity is not due to the high speed of destruction, but rather due to the impairment in production of ALA synthetase, which could explain the unresponsiveness to pyridoxine therapy in this case.