Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies

• Main Authors: Sookkasem Khositseth, Apiwan Sirikanaerat, Siri Khoprasert, Sauwalak Opastirakul, Pornchai Kingwatanakul, Wanna Thongnoppakhun, Pa Thai Yenchitsomanus
• 格式: 雜誌
• 出版: 2018
• 主題: Medicine
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=41949103722&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/60636

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 hematologica...