Klinik: 

Definition: Bei der Ovalozytose handelt es sich um eine heterogene Gruppe meist autosomal vererbter Erythrozytenerkrankungen, die durch eine ovale Form der Erythrozyten im Blutausstrich und einer Resistenz gegenübder Malaria gekennzeichnet ist.

Literatur: 

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.
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.
Yenchitsomanus PT et al. (2003) Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.
Yenchitsomanus PT et al. (2002) Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.