Article
Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network.
International journal of hematology - 1 Jun 1995
Kanzaki A, Yawata Y, Yawata A, Inoue T, Okamoto N, Wada H, Harano T, Harano K, Wilmotte R, Hayette S
Abstract excerpt
A novel mutation of 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene was detected in a 37-year-old Japanese patient with total lack of band 4.2 protein, designated as allele 4.2 Komatsu. In this patient, moderate uncompensated hemolytic anemia (red cell count 3.38 x 10(6)/microliters,...
Topics
- Adult
- Alleles
- Anemia, Hemolytic, Congenital
- Base Sequence
- Blood Proteins
- Cytoskeletal Proteins
- Cytoskeleton
- Erythrocytes, Abnormal
- Female
- Freeze Etching
- Genes
- Genotype
- Humans
- Male