Ovalocytosis is a heterogeneous hematological disorder. Inheritance is predominantly autosomal dominant. Red blood cells on the peripheral blood smear are ellliptically shaped, which probably is responsible for a resistance to malaria.
Bruce LJ et al. (2000) 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.[^]
Yenchitsomanus PT et al. (2002) Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.[^]
Yenchitsomanus PT et al. (2003) Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.[^]
Sritippayawan S et al. (2004) Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.[^]
Tanphaichitr VS et al. (1998) Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.[^]