Abstract |
We report a case of spherocytosis associated with erythrocyte band 3 deficiency. Sodium dodecyl sulfate- polyacrylamide gel electrophoresis of erythrocyte membrane proteins showed that the patient's band 3 was reduced to about 80% of the control level. Molecular analysis revealed that this quantitative alteration was accompanied by a novel base change at codon 837 ( ACG-->GCG) of the AE1 gene, resulting in substitution of alanine for threonine. In bone marrow mononuclear cells, both mutant and wild-type mRNA were comparably detected, suggesting that this mutation interfered with band 3 processing or assembly, leading to impaired accumulation of mutant band 3 in the plasma membrane.
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Authors | S Iwase, H Ideguchi, M Takao, J Horiguchi-Yamada, M Iwasaki, S Takahara, T Sekikawa, S Mochizuki, H Yamada |
Journal | Acta haematologica
(Acta Haematol)
Vol. 100
Issue 4
Pg. 200-3
( 1998)
ISSN: 0001-5792 [Print] Switzerland |
PMID | 9973643
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Anion Exchange Protein 1, Erythrocyte
- Threonine
- Alanine
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Topics |
- Adult
- Alanine
(genetics)
- Amino Acid Substitution
(genetics)
- Anion Exchange Protein 1, Erythrocyte
(deficiency, genetics)
- Humans
- Male
- Point Mutation
- Spherocytosis, Hereditary
(blood, genetics)
- Threonine
(genetics)
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