Article
Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis.
British journal of haematology - 1 Dec 1997
Kanzaki A, Hayette S, Morlé L, Inoue F, Matsuyama R, Inoue T, Yawata A, Wada H, Vallier A, Alloisio N, Yawata Y, Delaunay J
Abstract excerpt
Unlike previously reported cases with total protein 4.2 deficiency due to mutations in the EPB42 gene, we describe a total deficiency in protein 4.2 with normal EPB42 alleles. Hereditary spherocytosis (HS) was observed in a Japanese woman (unsplenectomized) and her daughter (splenectomized). The mother showed a partial deficiency in band 3 and a proportional reduction in protein 4.2. She was heterozygous for a...
Topics
- Amino Acid Substitution
- Anion Exchange Protein 1, Erythrocyte
- Blood Proteins
- Female
- Humans
- Mutation
- Spherocytosis, Hereditary