{{Rsnum
|rsid=33915217
|Chromosome=11
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=HBB
|position=5226925
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=HBB
}}{{omim
|id=141900
|rsnum=33915217
|variant=0357
}}
{{omim
|id=141900
|rsnum=33915217
|variant=0358
}}
{{omim
|id=141900
|rsnum=33915217
|variant=0359
}}

{{ClinVar
|rsid=33915217
|Reversed=1
|FwdREF=G
|FwdALT=A,C,T
|REF=C
|ALT=A,G,T
|RSPOS=5248155
|CHROM=11
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050168000000000402110104
|GENEINFO=HBB:3043
|GENE_NAME=HBB
|GENE_ID=3043
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000011.9:g.5248155C>A; NC_000011.9:g.5248155C>G; NC_000011.9:g.5248155C>T
|CLNSRC=GTR; OMIM Allelic Variant; GeneReviews
|CLNORIGIN=1
|CLNSRCID=
GTR000500319; 141900.0358; NBK1426; 141900.0357; 141900.0359
|CLNSIG=5
|CLNCUI=
|CLNDBN=Beta-plus-thalassemia; Beta thalassemia major; alpha Thalassemia; beta Thalassemia
|Disease=Beta-plus-thalassemia; Beta thalassemia major; alpha Thalassemia; beta Thalassemia
|CLNACC=
RCV000016706.24; RCV000030005.1; RCV000016705.24; RCV000020341.1; RCV000016707.24; RCV000030004.1
|Tags=RV;PM;PMC;SLO;HD;OTHERKG;LSD;OM;NOV
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0599528; NBK1426:NBK1435:C0002312:604131:846:68913001; NBK1426:C0005283:613985:848:65959000
}}

{{PMID|2539344}} Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron.

{{PMID|3021139}} Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.

{{PMID|3671081|OA=1
}} Expression of a beta thalassemia gene with abnormal splicing.

{{PMID|10815781}} Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.

{{PMID|14576320|OA=1
}} Intrinsic differences between authentic and cryptic 5' splice sites.

{{PMID|20704537}} ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.

{{PMID|2439149}} A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing.

{{PMID|2577233|OA=1
}} The molecular basis of beta thalassaemia in Bulgaria.

{{PMID|15278762}} Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

{{PMID Auto
|PMID=1463768
|Title=Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.
}}

{{PMID Auto
|PMID=2004023
|Title=Sickle cell-beta+ thalassaemia in Orissa State, India.
}}

{{PMID Auto
|PMID=6188062
|Title=Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.
}}

{{PMID Auto
|PMID=6714226
|Title=Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
|OA=1
}}

{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}