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Article

Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies.

American journal of hematology - 1 Jun 2008

Khositseth Sookkasem, Sirikanaerat Apiwan, Khoprasert Siri, Opastirakul Sauwalak, Kingwatanakul Pornchai, Thongnoppakhun Wanna, Yenchitsomanus Pa-thai

Abstract excerpt

Mutations of the human SLC4A1 gene encoding erythroid and kidney isoforms of anion exchanger 1 (AE1, band 3) result in erythrocyte abnormalities or distal renal tubular acidosis (dRTA) and such mutations are observed in Southeast Asia, where hemoglobinopathies are prevalent. Genetic and hematological studies in 18 Thai patients with dRTA have shown that 12 of them (67%) carried SLC4A1 mutations (7 G701D/G701D, 3...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Elliptocytosis, Hereditary

Share to Erythrocytes, Abnormal

Share to Hematologic Diseases

Share to Hemoglobinopathies

Share to Mutation, Missense

Share to Thailand

Source

Identifiers

PMID: 18266205
DOI: 10.1002/ajh.21151

Genes

SEA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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