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dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.

European journal of haematology - 1 Apr 2012

Fawaz Naglaa A, Beshlawi Ismail O, Al Zadjali Shoaib, Al Ghaithi Hamed K, Elnaggari Mohamed A, Elnour Ibtisam, Wali Yasser A, Al-Said Bushra B, Rehman Jalil U, Pathare Anil V, Knox-Macaulay Huxley, Alkindi Salam S

Abstract excerpt

Mutations in the anion exchanger 1 (AE1) gene encoding the erythroid and kidney anion (chloride-bicarbonate) exchanger 1 may result in familial distal renal tubular acidosis (dRTA) in association with membrane defect hemolytic anemia. Seven children presenting with hyperchloremic normal anion gap metabolic acidosis, failure to thrive, and compensated hemolytic anemia were studied. Analysis of red cell AE1/Band 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22126643
DOI: 10.1111/j.1600-0609.2011.01739.x

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