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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...

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Source

Identifiers

PMID: 9401060
DOI: 10.1046/j.1365-2141.1997.4263231.x

Genes

EPB42
AGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis.PMID 9401060Read ↗

Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency.Semantic proximity Read ↗

Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.Semantic proximity Read ↗

Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complexSemantic proximity Read ↗

Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.Semantic proximity Read ↗

Protein 4.2 Komatsu (D175Y) associated with the lack of interaction with ankyrin in human red blood cells.Semantic proximity Read ↗

Investigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (-) cells (mutations Chartres 1 and 2).Semantic proximity Read ↗

Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.Semantic proximity Read ↗

[Hereditary red cell membrane disorders in Japan: comparison with other countries].Semantic proximity Read ↗

An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON).Semantic proximity Read ↗

A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka).Semantic proximity Read ↗

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