en Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله کامل Full Length/Original Article <strong>Background: </strong>Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the <em>SLC4A1</em> gene encoding the anion exchanger 1. In this study, some patients with clinical evidence of congenital HS and renal symptoms were investigated. <strong>Methods: </strong>Twelve patients with congenital HS and renal symptoms were recruited from Ali-Asghar Children&rsquo;s Hospital (Tehran, Iran). A patient suspected of having dRTA was examined using whole exome sequencing method, followed by Sanger sequencing. <strong>Results: </strong>One patient (HS03) showed severe failure to thrive, short stature, frequent urinary infection, and weakness. A homozygote (rs571376371 for c.2494C>T; p.Arg832Cys) and a heterozygote (rs377051298 for c.466C>T; p.Arg156Trp) missense variant were identified in the <em>SLC4A1</em> and <em>SPTA1</em> genes, respectively. The compound heterozygous mutations manifested as idRTA and severe HS in patient HS03. <strong>Conclusion:</strong> Our observations, for the first time, revealed clinical and genetic characteristics of idRTA and severe HS in an Iranian patient HS03. Erythrocyte membrane protein, Hereditary spherocytosis, Hemolytic anemia, Whole-exome sequencing 359 367 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-4388-1&slc_lang=en&sid=1 Zahra Shahab-Movahed 0000-0002-7109-4804 No Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran Ahmad Majd 0000-0003-3707-7581 No Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran Elham Siasi Torbati 0000-0003-2204-0508 No Department of Genetic, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran Sirous Zeinali zeinali@kawsar.ir 0000-0002-2080-9582 Yes Department of Cellular and Molecular Biology, Faculty of Science, North Tehran Branch of Islamic Azad University, Tehran, Iran