Ovalocytosis, Southeast Asian; Sao

Description

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).

Clinical Features

Phenotypes and symptoms related to Ovalocytosis, Southeast Asian; Sao

  • Depressivity
  • Rigidity
  • Hemolytic anemia
  • Elliptocytosis

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Ovalocytosis, Southeast Asian; Sao Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Renal Tubular Acidosis, Distal, Autosomal Dominant.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SLC4A1
Specificity
100 %
Genes
100 %
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1, COL4A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG
Specificity
7 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
SLC4A1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC4A1
Specificity
100 %
Genes
100 %
SLC4A1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC4A1
Specificity
100 %
Genes
100 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5, ABCG8, SLC4A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG
Specificity
8 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Hereditary Hemolytic Anemia Sequencing, 28 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALDOA, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, GCLC , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
SLC4A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
SLC4A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
SLC4A1, Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
Hereditary spherocytosis type 4 (sequence analysis of SLC4A1 gene).

By CGC Genetics in Portugal.

SLC4A1
Specificity
100 %
Genes
100 %
Distal renal tubular acidosis (sequence analysis of SLC4A1 gene).

By CGC Genetics in Portugal.

SLC4A1
Specificity
100 %
Genes
100 %
Renal tubular acidosis, distal, AR (NGS panel for 3 genes).

By CGC Genetics in Portugal.

ATP6V1B1, SLC4A1, ATP6V0A4
Specificity
34 %
Genes
100 %
Hereditary spherocytosis (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
Hereditary spherocytosis (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
Renal tubular acidosis, distal, autosomal dominant.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
Spherocytosis, type 4.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
Southeast Asian Ovalocytosis.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
Blood group, Froese.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
Spherocytosis/Elliptocytosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42
Specificity
17 %
Genes
100 %
Hereditary Spherocytosis via the SLC4A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SLC4A1
Specificity
100 %
Genes
100 %
Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CA2, ATP6V1B1, SLC4A1, ATP6V0A4
Specificity
25 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Erythrocyte membrane disorder panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG
Specificity
15 %
Genes
100 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Spherocytosis panel.

By Centogene AG - the Rare Disease Company in Germany.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
Ovalocytosis.

By Centogene AG - the Rare Disease Company in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Renal tubular acidosis Panel.

By CeGaT GmbH in Germany.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
100 %
Single gene testing SLC4A1.

By CeGaT GmbH in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
Renal Tubular Acidosis, Distal (SLC4A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
Spherocytosis, Type 4 (SLC4A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
Southeast Asian Ovalocytosis (SAO, SLC4A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SLC4A1
Specificity
100 %
Genes
100 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.

By BLOODGENETICS BLOODGENETICS in Spain.

ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Hereditary Stomatocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SLC4A1
Specificity
100 %
Genes
100 %
Southeast Asian Ovalocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SLC4A1
Specificity
100 %
Genes
100 %
Hereditary Spherocytosis.

By Blood Cell Disease Reference Laboratory Yale University School of Medicine in United States.

SLC4A1, SPTB, SPTA1, ANK1
Specificity
25 %
Genes
100 %
Renal tubular acidosis, distal, AR.

By Praxis fuer Humangenetik Wien in Austria.

SLC4A1
Specificity
100 %
Genes
100 %
Renal tubular acidosis, distal, AD.

By Praxis fuer Humangenetik Wien in Austria.

SLC4A1
Specificity
100 %
Genes
100 %
Spherocytosis, 4.

By Praxis fuer Humangenetik Wien in Austria.

SLC4A1
Specificity
100 %
Genes
100 %
Renal tubular acidosis, distal, AR.

By MedGene in Slovakia.

SLC4A1
Specificity
100 %
Genes
100 %
Renal tubular acidosis, distal, AD.

By MedGene in Slovakia.

SLC4A1
Specificity
100 %
Genes
100 %
Spherocytosis, 4.

By MedGene in Slovakia.

SLC4A1
Specificity
100 %
Genes
100 %
Renal tubular Acidosis distal: SLC4A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
SPHEROCYTOSIS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

ALDOA, HBB, GPI, AK1, NT5C3A, HK1, PFKM, FANCC, RPS19, SLC2A1, G6PD, UGT1A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Hereditary Spherocytosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
SLC4A1.

By Fulgent Genetics Fulgent Genetics in United States.

SLC4A1
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Red Blood Cell Membrane Disorder Panel.

By Blueprint Genetics in Finland.

SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG
Specificity
15 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Renal Tubular Acidosis Panel.

By Blueprint Genetics in Finland.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Hereditary spherocytosis type 4.

By Bioarray in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
Autosomal dominant distal renal tubular acidosis.

By Bioarray in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
Elliptocytosis-2.

By Bioarray in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
Hereditary Spherocytosis (AD and AR) NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
Hereditary Spherocytosis autosomal dominant only NGS and Deletion/Duplication panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1, SPTB, ANK1
Specificity
34 %
Genes
100 %
SLC4A1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1
Specificity
100 %
Genes
100 %
Hereditary Spherocytosis type 4 (SLC4A1) Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

SLC4A1
Specificity
100 %
Genes
100 %
HEREDITARY SPHEROCYTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
HEREDITARY SPHEROCYTOSIS: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
Autosomal Recessive Distal Renal Tubular Acidosis, Sequencing SLC4A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
Hereditary Spherocytosis Type 4 , Sequencing SLC4A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
Autosomal Dominant Distal Renal Tubular Acidosis, Sequencing SLC4A1 Gene.

By Reference Laboratory Genetics in Spain.

SLC4A1
Specificity
100 %
Genes
100 %
Hereditary Spherocytosis , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

SLC4A1, SPTB, SPTA1, ANK1, EPB42
Specificity
20 %
Genes
100 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, NR3C2, KLHL3, SLC4A1, WNK4, CLDN16 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes.

By Reference Laboratory Genetics in Spain.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
20 %
Genes
100 %

Alternate names

Ovalocytosis, Southeast Asian; Sao Is also known as ovalocytosis, malaysian-melanesian-filipino type, elliptocytosis 4;el4, elliptocytosis, stomatocytic hereditary, he, stomatocytic;hereditary ovalocytosis; melanesian elliptocytosis; melanesian ovalocytosis; sao; stomatocytic elliptocytosis.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT FG SYNDROME 2; FGS2 AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 ABETA AMYLOIDOSIS, ARCTIC TYPE