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Abnormal Red‐Cell Metabolism of Pyridoxine Associated with β‐Thalassaemia
Author(s) -
Anderson B. B.,
Perry G. M.,
Modell C. B.,
Child J. A.,
Mollin D. L.
Publication year - 1979
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1979.tb05887.x
Subject(s) - pyridoxine , metabolism , medicine , red cell , chemistry , endocrinology
S ummary . Red‐cell conversion of pyridoxine to pyridoxal phosphate was studied in control subjects, and patients with heterozygous and homozygous β‐thalassaemia. In 7% of control subjects the rate of pyridoxine conversion was well below the range found in the other control subjects (5.0–8.6%, mean 6.5%/g Hb × 10 −2 ) but in heterozygous β‐thalassaemia was below that range in 63% of the patients. The conversion rate was also slow or borderline in the majority of patients with severe transfusion‐dependent homozygous β‐thalassaemia, in spite of the presence of some donor cells; but was normal, or fast as in other anaemias, in all but one patient with mild homozygous thalassaemia. There was a much higher incidence of a slow conversion rate in the parents of the severe homozygotes than in parents of the mild homozygotes, illustrating the familial pattern. This supports our view that the red‐cell conversion rate of pyridoxine is an inherited characteristic, independent of thalassaemia. The cause of a reduced rate of pyridoxine conversion was investigated. The increase to a normal rate following riboflavin ingestion suggests a defect in the activity of the flavin mononucleotide (FMN)‐dependent pyridoxine phosphate oxidase.