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HBB

From SNPedia

is agene
is mentioned by
Full namehemoglobin, beta
EntrezGene3043
PheGenI3043
VariationViewer3043
ClinVarHBB
GeneCardsHBB
dbSNP3043
DiseasesHBB
SADR3043
HugeNav3043
wikipediaHBB
googleHBB
gopubmedHBB
EVSHBB
HEFalMpHBB
MyGene2HBB
23andMeHBB
UniProtP68871
EnsemblENSG00000244734
OMIM141900
# SNPs408
 Max MagnitudeChromosome positionSummary
i30031375,248,232
i6012327
i6012428
i6012473
rs1110335825,225,692
rs1110335835,226,778
rs1110335845,226,798
rs1110335855,226,776
rs1116458895,225,653
rs113507105,226,799
rs113510105,226,788
rs114137005,226,792
rs114138705,226,789
rs115494075.55,226,774
rs1219098045,226,669
rs1219098055,225,611
rs1219098065,225,662
rs1219098075,226,976
rs1219098085,226,779
rs1219098095,225,662
rs1219098105,226,714
rs1219098115,226,662
rs1219098125,225,714
rs1219098135,226,597
rs1219098145,226,606
rs1219098155,227,017
rs1219098165,226,976
rs1219098175,226,949
rs1219098185,225,714
rs1219098195,227,000
rs1219098205,225,611
rs1219098215,226,642
rs1219098235,226,784
rs1219098245,225,662
rs1219098255,226,630
rs1219098265,226,642
rs1219098275,226,780
rs1219098285,226,937
rs1219098295,225,608
rs1219098305,227,017
rs1219098315,226,934
rs180319505,226,641
rs19392255205,227,002
rs19392255305,226,691
rs19392255405,226,688
rs19392255505,226,641
rs19392256305,226,797
rs26760729705,226,784
rs26760729805,226,775
rs2818645255,227,097
... further results

The HBB gene encodes beta globin and is located on chromosome 11. Mutations in the HBB gene may lead to several conditions, the best known of which are sickle cell anemia and beta-thalassemia, as well as beneficial aspects such as resistance to malaria.Wikipedia

One of most common autosomal recessive disorders in the world, beta-thalassemia is caused by the reduced (beta+; β+) or absent (beta0; β0) synthesis of the beta globin chains of the hemoglobin tetramer. Three clinical and hematological conditions of increasing severity are recognized, i.e., the beta-thalassemia carrier state, thalassemia intermedia, and thalassemia major. The beta-thalassemia carrier state, which results from heterozygosity for beta-thalassemia, is clinically asymptomatic. Thalassemia intermedia comprehend a clinically and genotypically very heterogeneous group of thalassemia-like disorders, ranging in severity from the asymptomatic carrier state to the severe transfusion-dependent type. Thalassemia major is a severe transfusion-dependent anemia. [PMID 20098328OA-icon.png]

Over 1,000 disease-causing (pathogenic) mutations in the HBB gene are listed in databases such as HbVar and ITHANET. The vast majority of these mutations are so rare, in many cases having been seen only in a handful of people located in one region, that the likelihood of truly being positive for one of them is lower than the odds of a technical miscall on the genotyping platforms used by the major direct-to-consumer testing companies.

Fortunately, beta-thalassemia mutation surveys have been conducted for many years now, and a relatively small number of mutations comprise over 90% of the ones present in most countries.[PMID 20098328OA-icon.png]

These "most common" mutations are listed in the table below and have individual entries in SNPedia (and reported in Promethease). While there is a very wide spectrum of clinical presentations, in general thalassemia major is caused by homozygous or compound heterozygous β0 mutant genotypes, while thalassemia intermedia is brought about by genotypes having multiple β+, β++ mutations, in some cases including a β0 mutation.

rsid 23andMe term HGVS name Common name Severity Population OMIM On chip?
rs33985472 rs33985472 c.*+113A>G Poly A (A>G); AATAAA to AATAAG β++ Kurdish 141900.0383 23andMe v3, 23andMe v4, Ancestry v2
rs63751128 c.*+111A>G Poly A (A>G); AATAAA to AATGAA β++ Mediterranean 141900.0399 23andMe v3, Ancestry v2
rs33978907 c.*+110T>C Poly A (T>C); AATAAA to AACAAA β++ African. Turkish 141900.0382
rs33913413 c.316-3C>A IVS2-nt848 C>A β+ African, Egyptian, Iranian 141900.0361
rs34690599 rs34690599 c.316-106C>G IVS2-nt745 C>G β+ Mediterranean 141900.0367 23andMe v3, FTDNA2, HumanOmni1Quad, 23andMe v4, Ancestry v2
rs34451549 rs34451549 c.316-197C>T IVS2-nt654 C>T β+ Chinese, SE Asian, Japanese 141900.0368 23andMe v3, 23andMe v4, Ancestry v2
rs33945777 rs33945777 c.315+1G>A IVS2-nt1 G>A β0 Mediterranean, African, Pakistani 141900.0348 FTDNA2, HumanOmni1Quad, 23andMe v4
rs80356820 rs35811659 c.135delC CD44 -C β0 Kurdish 141900.0324 Ancestry v2
rs281864900 c.124_127delTTCT, c.126_129delCTTT or -CTTTCD41/42 -TTCT β0 SE Asian, Chinese 141900.0326 Ancestry v2
rs11549407 rs11549407 c.118C>T CD39 C>T β0 Mediterranean 141900.0312 23andMe v4
rs33974936 i6012428 c.114G>A CD37 G>A β0 Saudi Arabian 141900.0315
rs35004220 rs35004220 c.93-21G>A IVS1-nt110 G>A β+ Mediterranean 141900.0364 23andMe v3, FTDNA2, HumanOmni1Quad, 23andMe v4, Ancestry v2
rs35724775 rs35724775 c.92+6T>C IVS1-nt6 T>C β+ Mediterranean 141900.0360 23andMe v3, FTDNA2, HumanOmni1Quad, 23andMe v4
rs33915217 rs33915217 c.92+5G>C IVS1-nt5 G>C β0 East Asian, Indian, Pakistani 141900.0357 FTDNA2, HumanOmni1Quad, 23andMe v4
rs33971440 rs33971440 c.92+1G>A IVS1-nt1 G>A β0 Mediterranean, Indian 141900.0346 HumanOmni1Quad, 23andMe v4
rs33960103 rs33960103 c.92G>C CD30 G>C (Hb Monroe) β0 Mediterranean, African, Pakistani 141900.0144 23andMe v4
rs35424040 i6012327 c.82G>T CD27 G>T (Hb Knossos) β++ Mediterranean 141900.0149 HumanOmni1Quad
rs33950507 rs35477349 c.79G>A CD26 G>A (Hb E) β+ SE Asian, European, Far East 141900.0071 23andMe v4
rs33972047 c.59A>G CD19 G>A (Hb Malay) β++ SE Asian, Chinese 141900.0168 HumanOmni1Quad, Ancestry v2
rs33986703 rs33986703 c.52A>T CD17 A>T β0 Chinese, Japanese 141900.0311 23andMe v4
rs35662066 rs35662066 c.51delC CD16 G>C β0 Indian, Pakistani 141900.0323 23andMe v3, 23andMe v4, Ancestry v2
rs34716011 rs34716011 c.48G>A CD15 G>A β0 Japanese, Portuguese 141900.0313 23andMe v3, 23andMe v4
rs63750783 rs63750783 c.47G>A CD15 G>A β0 Indian, Japanese, Pakistani 141900.0313 23andMe v3, 23andMe v4, Ancestry v2
rs35699606 rs35699606 c.27_28insG CD8/9 +G β0 Indian, Japanese, Pakistani 141900.0325 23andMe v3, 23andMe v4, Ancestry v2
rs35497102 rs35497102 c.25_26delAA CD8 -AA β0 Mediterranean 141900.0322 23andMe v3, 23andMe v4, Ancestry v2
rs334 i3003137 CD6 (Hb S) n/a 141900.0243
rs63749819 c.20delA CD6 -A β0 Mediterranean, African 141900.0327 Ancestry v2
rs33930165 rs33930165 c.19G>A CD6 G>A (Hb C) n/a African 141900.0038 HumanOmni1Quad, 23andMe v4, Ancestry v2
rs34889882 rs34889882 c.17_18delCT CD5 -CT β0 Mediterranean, Pakistani 141900.0332 23andMe v3, 23andMe v4, Ancestry v2
rs33931746 c.-78A>C -28 A>C β+ SE Asian, Kurds 141900.0380 FTDNA2, HumanOmni1Quad, 23andMe v4
rs33931746 c.-78A>G -28 A>G β+ SE Asians, Africans 141900.0381 FTDNA2, HumanOmni1Quad, 23andMe v4
rs34598529 rs34598529 c.-79A>G -29 A>G β+ African, Chinese 141900.0379 23andMe v3, FTDNA2, HumanOmni1Quad, 23andMe v4, Ancestry v2
rs33980857 c.-80T>A -30 T>A β+ Mediterranean, Bulgarian 141900.0377
rs33981098 i6012473 c.-81A>G -31 A>G β+ Japanese 141900.0376
rs33941377 c.-137C>G -87 C>G β++ Mediterranean, African 141900.0374
rs33944208 rs33944208 c.-138C>T -88 C>T β++ African, Pakistani, Indian 141900.0372 HumanOmni1Quad, 23andMe v4
rs63751208 rs63751208 c.-151C>T -101 C>T β++ Mediterranean 141900.0370 23andMe v3, 23andMe v4, Ancestry v2