Hereditary Elliptocytosis and Primary Renal Tubular Acidosis in a Single Family

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

“…The association between SAO and dRTA has been noted several times [10,[25][26][27]. It is clear from our own [3] and other studies [10,14] that the SAO allele does not itself give dRTA.…”

“…There have been several reports of an association between dRTA and SAO [10,[25][26][27]. To explore the relationships between band 3 gene mutations, dRTA and SAO, we studied 13 Malaysian and PNG dRTA patients from 9 families with dRTA or both dRTA and SAO, and 8 other subjects with SAO alone.…”

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

“…We were originally prompted to carry out this study because of the possibility that there was an association between dRTA and hereditary ovalocytosis. This was suggested from the report of a Filipino family with both syndromes by Baehner et al, (44) and because one of us had seen three unrelated patients in Malaysia with both dRTA and ovalocytosis (Wrong, O., unpublished observations). The best characterized form of hereditary ovalocytosis (Southeast Asian ovalocytosis, SAO) results from the heterozygous presence of an abnormal band 3 (band 3 SAO) that has a deletion of residues 400-408, and gives rise to abnormally rigid red cells (6).…”

Highly Accurate CCSD(T) and DFT–SAPT Stabilization Energies of H‐Bonded and Stacked Structures of the Uracil Dimer

“…Effects of the SAO mutation(s) are mild or asymptomatic when heterozygous, but can be lethal in utero when homozygous 29. In 1968, a Filipino family was described with both ovalocytosis and renal disease 29, 30. Renal symptoms were typical of renal tubular acidosis (RTA), or what is today referred to as ‘hypokalaemic dRTA’ or simply dRTA.…”