{{Rsnum
|rsid=33946267
|Chromosome=11
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=HBB
|position=5225678
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=HBB
}}{{omim
|id=141900
|rsnum=33946267
|variant=0065
}}
{{omim
|id=141900
|rsnum=33946267
|variant=0202
}}
{{omim
|id=141900
|rsnum=33946267
|variant=0245
}}
{{omim
|id=141900
|rsnum=33946267
|variant=0276
}}
{{omim
|id=141900
|rsnum=33946267
|variant=0314
}}
{{omim
|id=141900
|rsnum=33946267
|variant=0507
}}{{ClinVar
|rsid=33946267
|Reversed=1
|FwdREF=G
|FwdALT=A,C,T
|REF=C
|ALT=A,G,T
|RSPOS=5246908
|CHROM=11
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050368000000000002110104
|GENEINFO=HBB:3043
|GENE_NAME=HBB
|GENE_ID=3043
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000011.9:g.5246908C>A; NC_000011.9:g.5246908C>G; NC_000011.9:g.5246908C>T
|CLNSRC=GTR; HBVAR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=
GTR000500319; 951; 141900.0314; 509; 141900.0065; 141900.0276; 141900.0407; 141900.0502; 510; 141900.0202; 141900.0245; 141900.0507
|CLNSIG=255
|CLNCUI=
|CLNDBN=Beta-thalassemia, dominant inclusion body type; HEMOGLOBIN D (PUNJAB); HEMOGLOBIN D (CHICAGO); HEMOGLOBIN D (LOS ANGELES); HEMOGLOBIN D (NORTH CAROLINA); HEMOGLOBIN D (PORTUGAL); HEMOGLOBIN OAK RIDGE; HEMOGLOBIN T (CAMBODIA); HEMOGLOBIN CLEVELAND; HEMOGLOBIN D (AGRI); beta Thalassemia; HEMOGLOBIN O (ARAB); HEMOGLOBIN EGYPT; HEMOGLOBIN S (OMAN); HEMOGLOBIN O (TIBESTI)
|Disease=Beta-thalassemia; HEMOGLOBIN D (PUNJAB); HEMOGLOBIN D (CHICAGO); HEMOGLOBIN D (LOS ANGELES); HEMOGLOBIN D (NORTH CAROLINA); HEMOGLOBIN D (PORTUGAL); HEMOGLOBIN OAK RIDGE; HEMOGLOBIN T (CAMBODIA); HEMOGLOBIN CLEVELAND; HEMOGLOBIN D (AGRI); beta Thalassemia; HEMOGLOBIN O (ARAB); HEMOGLOBIN EGYPT; HEMOGLOBIN S (OMAN); HEMOGLOBIN O (TIBESTI)
|CLNACC=
RCV000016658.21; RCV000016315.1; RCV000016316.1; RCV000016317.1; RCV000016318.1; RCV000016319.1; RCV000016320.1; RCV000016617.1; RCV000016758.1; RCV000016858.1; RCV000029994.1; RCV000016524.1; RCV000016525.1; RCV000016577.1; RCV000016863.1; RCV000029993.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM;NOV
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1426:C0005283:613985:848:65959000
}}{{PMID Auto
|PMID=1732017
|Title=Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes.
}}

{{PMID Auto
|PMID=2930724
|Title=A new doubly substituted sickling haemoglobin: HbS-Oman.
}}

{{PMID Auto
|PMID=5915974
|Title=Haemoglobin O Arab in Sudanese.
}}

{{PMID Auto
|PMID=6716421
|Title=Haemoglobin O Arab (B121 Glu-Lys) in Turkish Cypriot population.
|OA=1
}}

{{PMID Auto
|PMID=11179419
|Title=Characterization of syntenin, a syndecan-binding PDZ protein, as a component of cell adhesion sites and microfilaments.
|OA=1
}}

{{PMID Auto
|PMID=18254282
|Title=[Hemoglobin O Arab: about 20 cases].
}}

{{PMID Auto
|PMID=640855
|Title=Hemoglobin Osu-Christiansborg (beta52 (D3) Aspyield Asn) in an Iranian family.
}}

{{PMID Auto
|PMID=2111975
|Title=Regulatory role of arachidonic acid-derived metabolites for proliferation of transformed murine Leydig cell in serum-free culture condition.
}}

{{PMID Auto
|PMID=12709369
|Title=Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.
}}

{{PMID Auto
|PMID=19460936
|Title=Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.
|OA=1
}}

{{PMID Auto
|PMID=20437613
|Title=Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
}}

{{PMID Auto
|PMID=20704537
|Title=ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.
}}{{PMID Auto
|PMID=12403491
|Title=Molecular characterization of Hb D-Punjab [beta121(GH4)Glu-->Gln] in Thailand.
}}

{{PMID Auto
|PMID=893136
|Title=Homozygous hemoglobin O Arab in a gypsy family in Yugoslavia.
}}

{{PMID Auto
|PMID=1112610
|Title=Twelve families with Hb O Arab in the Burgas district of Bulgaria. Observations on sixteen examples of Hb O Arab-beta (0) thalassaemia.
}}

{{PMID Auto
|PMID=5481775
|Title=Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C.
}}

{{PMID Auto
|PMID=10205993
|Title=HbOThrace trait, HbOThrace hemoglobinopathy and HbOThrace/Hb beta zero hemoglobinopathy: a retrospective study of 118 cases.
}}

{{PMID Auto
|PMID=1517108
|Title=Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).
}}

{{PMID Auto
|PMID=1740317
|Title=Molecular characterization of beta-thalassemia in Czechoslovakia.
}}

{{PMID Auto
|PMID=1971109
|Title=Molecular basis for dominantly inherited inclusion body beta-thalassemia.
|OA=1
}}

{{PMID Auto
|PMID=2563949
|Title=One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain.
}}

{{PMID Auto
|PMID=3014870
|Title=Characterization of a spontaneous mutation to a beta-thalassemia allele.
|OA=1
}}

{{PMID Auto
|PMID=3417300
|Title=A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.
}}

{{PMID Auto
|PMID=4361439
|Title=Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes.
}}