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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.


Hereditary diseases of the hematopoetic system and coagulopathies
Aplastic anemia
Autoimmune lymphoproliferative syndrome 5
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
Familial hemophagocytic lymphohistiocytosis
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency



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.


OMIM.ORG article

Omim 611590 [^]

Orphanet article

Orphanet ID 98868 [^]

Wikipedia article

Wikipedia EN (Southeast_Asian_ovalocytosis) [^]
Update: May 10, 2019
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