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Title: Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies
Authors: Sookkasem Khositseth
Apiwan Sirikanaerat
Siri Khoprasert
Sauwalak Opastirakul
Pornchai Kingwatanakul
Wanna Thongnoppakhun
Pa Thai Yenchitsomanus
Faculty of Medicine, Thammasat University
Khon Kaen Regional Hospital
Surajthani Hospital
Chiang Mai University
Chulalongkorn University
Mahidol University
Keywords: Medicine
Issue Date: 1-Jun-2008
Citation: American Journal of Hematology. Vol.83, No.6 (2008), 465-471
Abstract: 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 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 α+-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (- SEA/-α4.2). The blood smears of patients with homozygous G701D/G701D showed ∼25% 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 α+- thalassemia 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 α+-thalassemia presented with hemolytic anemia and hepatosplenomegaly which was alleviated by alkaline therapy. Taken together, the coexistence of both homozygous or compound heterozygous SLC4A1 mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis. © 2008 Wiley-Liss, Inc.
ISSN: 10968652
Appears in Collections:Scopus 2006-2010

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