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Ovalocytosis
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Ovalocytosis

Clinical feature: 

Definition: 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.

Systematic link table: 

hereditary diseases of the hematopoetic system and coagulopathies
Hereditary bleeding disorders
Inherited disorders of platelets
Ovalocytosis
SLC4A1
Paroxysmal nocturnal hemoglobinuria
PIGA
Thromboembolic diseases
F2
F5
HABP2
MTHFR
PROC
PROS1
SERPINC1
THBD
VKORC1

Literature: 

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.