SAO
MCID: OVL001
MIFTS: 33

Ovalocytosis, Southeast Asian (SAO)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ovalocytosis, Southeast Asian

MalaCards integrated aliases for Ovalocytosis, Southeast Asian:

Name: Ovalocytosis, Southeast Asian 57 72 29 6 70
Elliptocytosis 4 57 72 29 70
Sao 57 58 72
Ovalocytosis, Malaysian-Melanesian-Filipino Type 57 72
Elliptocytosis, Stomatocytic Hereditary 57 72
Southeast Asian Ovalocytosis 58 36
Ovalocytosis, Sa Type 57 72
He, Stomatocytic 57 72
El4 57 72
Stomatocytic Elliptocytosis 58
Elliptocytosis, Hereditary 70
Melanesian Elliptocytosis 58
Hereditary Ovalocytosis 58
Melanesian Ovalocytosis 58
Elliptocytosis 4; El4 57

Characteristics:

Orphanet epidemiological data:

58
southeast asian ovalocytosis
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
ovalocytosis, southeast asian:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 166900
KEGG 36 H01720
MeSH 44 D004612
ICD10 via Orphanet 33 D58.1
Orphanet 58 ORPHA98868
UMLS 70 C0013902 C1862323 C1862324

Summaries for Ovalocytosis, Southeast Asian

KEGG : 36 Southeast Asian ovalocytosis (SAO) is a very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic, with prevalence varying between 5% and 25%. SAO is now known to be caused by a 27 base-pair deletion in SLC4A1, which codes for band 3, a 911 amino acid protein that is both a structural component of the red cell membrane cytoskeleton and the chloride-bicarbonate anion-exchanger in this membrane. SAO is believed to have evolved because these parts of Southeast Asia historically have had a high incidence of Plasmodium falciparum malaria, against which SAO offers clinical protection. Individuals with SAO are characterized as having oval-shaped red blood cells with increased membrane rigidity and decreased anion transport, but no clinical symptoms beyond sporadic associations with anemia in both adults and neonates. The diagnosis is made accidentally as a result of a peripheral blood smear examination, showing the characteristic rounded elliptocytes (ovalocytes).

MalaCards based summary : Ovalocytosis, Southeast Asian, also known as elliptocytosis 4, is related to autosomal dominant distal renal tubular acidosis and richieri-costa/guion-almeida syndrome. An important gene associated with Ovalocytosis, Southeast Asian is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). Affiliated tissues include kidney and bone, and related phenotypes are hemolytic anemia and elliptocytosis

OMIM® : 57 Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 1993). (166900) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Ovalocytosis, Southeast Asian: A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic.

Wikipedia : 73 Southeast Asian ovalocytosis is a blood disorder that is similar to, but distinct from hereditary... more...

Related Diseases for Ovalocytosis, Southeast Asian

Diseases related to Ovalocytosis, Southeast Asian via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal renal tubular acidosis 11.3
2 richieri-costa/guion-almeida syndrome 11.1
3 rocky mountain spotted fever 11.1
4 thymoma, familial 10.7
5 thymoma 10.7
6 renal tubular acidosis 10.6
7 distal renal tubular acidosis 10.6
8 thalassemia 10.4
9 bilirubin metabolic disorder 10.4
10 helix syndrome 10.3
11 metabolic acidosis 10.3
12 neonatal anemia 10.3
13 plasmodium vivax malaria 10.3
14 hypokalemia 10.3
15 pertussis 10.2
16 syphilis 10.2
17 schistosoma mansoni infection, susceptibility/ 10.2
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
19 chagas disease 10.2
20 schistosomiasis 10.2
21 human immunodeficiency virus type 1 10.1
22 yellow fever 10.1
23 beta-thalassemia 10.1
24 scoliosis 10.1
25 bone disease 10.1
26 osteomalacia 10.1
27 secondary hyperparathyroidism 10.1
28 nephrocalcinosis 10.1
29 hyperparathyroidism 10.1
30 neonatal jaundice 10.1
31 blood group incompatibility 10.1
32 hemoglobin e disease 10.1
33 hemolytic anemia 10.1
34 chronic kidney disease 10.1
35 congenital syphilis 10.1
36 autosomal recessive distal renal tubular acidosis 10.1
37 posttransplant acute limbic encephalitis 10.1
38 periodic paralysis 10.1
39 mast cell neoplasm 10.1
40 extracutaneous mastocytoma 10.1
41 rabies 10.1
42 toxoplasmosis 10.1
43 elliptocytosis 2 10.0
44 leprosy 3 10.0
45 kala-azar 1 10.0
46 elliptocytosis 3 10.0
47 hereditary elliptocytosis 10.0
48 rhinitis 10.0
49 poliomyelitis 10.0
50 leishmaniasis 10.0

Graphical network of the top 20 diseases related to Ovalocytosis, Southeast Asian:



Diseases related to Ovalocytosis, Southeast Asian

Symptoms & Phenotypes for Ovalocytosis, Southeast Asian

Human phenotypes related to Ovalocytosis, Southeast Asian:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878
2 elliptocytosis 31 HP:0004445

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Heme:
hemolytic anemia
ovalocytosis

Clinical features from OMIM®:

166900 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ovalocytosis, Southeast Asian

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes Completed NCT00723567

Search NIH Clinical Center for Ovalocytosis, Southeast Asian

Genetic Tests for Ovalocytosis, Southeast Asian

Genetic tests related to Ovalocytosis, Southeast Asian:

# Genetic test Affiliating Genes
1 Ovalocytosis, Southeast Asian 29 SLC4A1
2 Elliptocytosis 4 29

Anatomical Context for Ovalocytosis, Southeast Asian

MalaCards organs/tissues related to Ovalocytosis, Southeast Asian:

40
Kidney, Bone

Publications for Ovalocytosis, Southeast Asian

Articles related to Ovalocytosis, Southeast Asian:

(show top 50) (show all 119)
# Title Authors PMID Year
1
The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal. 61 6 57
7949112 1994
2
Molecular defect of the band 3 protein in southeast Asian ovalocytosis. 61 57 6
2146504 1990
3
Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. 6 61
19229254 2009
4
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. 61 6
14618420 2003
5
Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3. 61 6
10403343 1999
6
Southeast Asian ovalocytosis in a South African kindred with hemolytic anemia. 61 57
8608262 1996
7
Southeast Asian ovalocytosis in an African-American family. 61 6
7919393 1994
8
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. 61 57
1722314 1991
9
Hereditary ovalocytosis with compensated haemolysis. 57
8251392 1993
10
The expression of the abnormal human red cell anion transporter from South-East Asian ovalocytes (band 3 SAO) in Xenopus oocytes. 6
7689982 1993
11
Molecular and cellular biology of the erythrocyte anion exchanger (AE1). 6
8434259 1993
12
Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. 6
1378323 1992
13
Molecular basis for membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3. 6
1737855 1992
14
Human erythrocyte Band-3 has an altered N terminus in malaria-resistant Melanesian ovalocytosis. 57
2268683 1990
15
Elliptocytosis, malaria, and fertility in Malaysia. 57
3235080 1988
16
Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro. 57
6338046 1983
17
The mode of inheritance of ovalocytosis/elliptocytosis in Malaysian Orang Asli families. 57
7173868 1982
18
Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture. 57
7029547 1981
19
The ovalocytosis polymorphism on the western border of Papua, New Guinea. 57
6972343 1981
20
Hereditary ovalocytosis and splenic rupture. 57
6774560 1980
21
Malaria and hereditary ovalocytosis. 57
328370 1977
22
Selective depression of blood group antigens associated with hereditary ovalocytosis among melanesians. 57
403680 1977
23
Genetic factors and malaria in the Temuan. 57
817597 1976
24
Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency and hereditary ovalocytosis in the Dayaks of Sarawak. 57
1184011 1975
25
The occurrence of weak I T red cell antigen among Melanesians. 57
4551826 1972
26
Haemoglobin E-hereditary elliptocytosis in Malayan aborigines. 57
4625303 1972
27
AUTOSOMAL DOMINANT HEMOLYTIC ANEMIA CHARACTERIZED BY OVALOCYTOSIS; A FAMILY STUDY OF SEVEN INVOLVED MEMBERS. 57
14314234 1965
28
Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses. 61
32815885 2021
29
Homozygous Southeast Asian Ovalocytosis in five live-born neonates. 61
33179475 2020
30
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease. 61
32758154 2020
31
A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis. 61
32141208 2020
32
Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation. 61
32411010 2020
33
Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis. 61
32636758 2020
34
Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient. 61
31323480 2019
35
Advances in understanding the pathogenesis of red cell membrane disorders. 61
31364155 2019
36
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. 61
30124986 2019
37
Can exchange transfusions using red blood cells from donors with Southeast Asian ovalocytosis prevent or ameliorate cerebral malaria in patients with multi-drug resistant Plasmodium falciparum? 61
29100683 2017
38
Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear. 61
29043981 2017
39
Concurrent β-thalassaemia trait and Southeast Asian ovalocytosis associated with clinically significant iron loading. 61
28024237 2017
40
Effect of the Southeast Asian Ovalocytosis Deletion on the Conformational Dynamics of Signal-Anchor Transmembrane Segment 1 of Red Cell Anion Exchanger 1 (AE1, Band 3, or SLC4A1). 61
28068080 2017
41
Incidental finding of 3 Southeast Asian ovalocytosis cases by attentive examination of blood smears. 61
28057675 2017
42
Diffusion of glycophorin A in human erythrocytes. 61
27580023 2016
43
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context. 61
27058983 2016
44
The evolutionary origins of Southeast Asian Ovalocytosis. 61
26047685 2015
45
[Band 3 deficiency as a cause of hereditary spherocytosis]. 61
26251147 2015
46
Risk factors for malaria and adverse birth outcomes in a prospective cohort of pregnant women resident in a high malaria transmission area of Papua New Guinea. 61
25758854 2015
47
Epistasis and the sensitivity of phenotypic screens for beta thalassaemia. 61
25521998 2015
48
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. 61
26557672 2015
49
Malaria parasites and red cell variants: when a house is not a home. 61
24675047 2014
50
Evaluation of red cell membrane cytoskeletal disorders using a flow cytometric method in South iran. 61
24764726 2014

Variations for Ovalocytosis, Southeast Asian

ClinVar genetic disease variations for Ovalocytosis, Southeast Asian:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC4A1 NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) Deletion Pathogenic 17753 rs769664228 GRCh37: 17:42335411-42335437
GRCh38: 17:44258043-44258069
2 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 GRCh37: 17:42333076-42333076
GRCh38: 17:44255708-44255708

Expression for Ovalocytosis, Southeast Asian

Search GEO for disease gene expression data for Ovalocytosis, Southeast Asian.

Pathways for Ovalocytosis, Southeast Asian

GO Terms for Ovalocytosis, Southeast Asian

Sources for Ovalocytosis, Southeast Asian

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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