{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:36:05Z","timestamp":1791826565703,"version":"4.3.4"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,1,10]],"date-time":"2008-01-10T00:00:00Z","timestamp":1199923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of the human <jats:italic>SLC4A1<\/jats:italic> 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 <jats:italic>SLC4A1<\/jats:italic> mutations (7 G701D\/G701D, 3 SAO\/G701D, and 2 G701D\/A858D). Of these 12 patients, three had homozygous G701D\/G701D and heterozygous Hb E; one compound heterozygous SAO\/G701D and heterozygous \u03b1<jats:sup>+<\/jats:sup>\u2010thalassemia; and one compound heterozygous G701D\/A858D and heterozygous Hb E. Of 6 patients without <jats:italic>SLC4A1<\/jats:italic> mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (\u2010\u2010<jats:sup>SEA<\/jats:sup>\/\u2010\u03b1<jats:sup>4.2<\/jats:sup>). The blood smears of patients with homozygous G701D\/G701D showed \u223c25% ovalocytes. Strikingly, the patients with coexistence of homozygous G701D\/G701D and heterozygous Hb E had 58% ovalocytes. Similarly, the patients who had compound heterozygous SAO\/G701D showed 49% ovalocytes, but the patient with coexistence of compound heterozygous SAO\/G701D and heterozygous \u03b1<jats:sup>+<\/jats:sup>\u2010thalassemia had 70% ovalocytes. Our previous study has shown that under metabolic acidosis, the patients with homozygous G701D\/G701D or compound heterozygous SAO\/G701D had reticulocytosis, indicating compensated hemolysis. A patient with compound heterozygous SAO\/G701D and heterozygous \u03b1<jats:sup>+<\/jats:sup>\u2010thalassemia presented with hemolytic anemia and hepatosplenomegaly which was alleviated by alkaline therapy. Taken together, the coexistence of both homozygous or compound heterozygous <jats:italic>SLC4A1<\/jats:italic> mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis. Am. J. Hematol., 2008. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.21151","type":"journal-article","created":{"date-parts":[[2008,2,11]],"date-time":"2008-02-11T17:46:51Z","timestamp":1202752011000},"page":"465-471","source":"Crossref","is-referenced-by-count":30,"title":["Hematological abnormalities in patients with distal renal tubular acidosis and 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