Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ovalocytosis

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

Hereditary diseases of the hematopoetic system and coagulopathies
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
Ovalocytosis
SLC4A1
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency

References:

1.

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.

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2.

Yenchitsomanus PT et al. (2002) Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.

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3.

Yenchitsomanus PT et al. (2003) Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.

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4.

Sritippayawan S et al. (2004) Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.

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5.

Tanphaichitr VS et al. (1998) Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

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6.

OMIM.ORG article

Omim 611590 [^]
7.

Orphanet article

Orphanet ID 98868 [^]
8.

Wikipedia article

Wikipedia EN (Southeast_Asian_ovalocytosis) [^]
Update: April 29, 2019