HBB
| is a | gene |
| is | mentioned by |
| Full name | hemoglobin, beta |
| EntrezGene | 3043 |
| PheGenI | 3043 |
| VariationViewer | 3043 |
| ClinVar | HBB |
| GeneCards | HBB |
| dbSNP | 3043 |
| Diseases | HBB |
| SADR | 3043 |
| HugeNav | 3043 |
| wikipedia | HBB |
| HBB | |
| gopubmed | HBB |
| EVS | HBB |
| HEFalMp | HBB |
| MyGene2 | HBB |
| 23andMe | HBB |
| UniProt | P68871 |
| Ensembl | ENSG00000244734 |
| OMIM | 141900 |
| # SNPs | 413 |
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 20098328
]
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 20098328]
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 v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Ancestry v2d |
| rs63751128 | c.*+111A>G | Poly A (A>G); AATAAA to AATGAA | β++ | Mediterranean | 141900.0399 | Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Ancestry v2d | |
| rs33978907 | c.*+110T>C | Poly A (T>C); AATAAA to AACAAA | β++ | African. Turkish | 141900.0382 | Ancestry v2c, Ancestry v2d | |
| 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 v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, FTDNA2, HumanOmni1Quad, Ancestry v2d |
| rs34451549 | rs34451549 | c.316-197C>T | IVS2-nt654 C>T | β+ | Chinese, SE Asian, Japanese | 141900.0368 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Ancestry v2d |
| rs33945777 | rs33945777 | c.315+1G>A | IVS2-nt1 G>A | β0 | Mediterranean, African, Pakistani | 141900.0348 | 23andMe v4, FTDNA2, HumanOmni1Quad |
| rs80356820 | rs35811659 | c.135delC | CD44 -C | β0 | Kurdish | 141900.0324 | Ancestry v2, Ancestry v2c, Ancestry v2d |
| rs281864900 | c.124_127delTTCT, c.126_129delCTTT | or -CTTTCD41/42 -TTCT | β0 | SE Asian, Chinese | 141900.0326 | Ancestry v2, Ancestry v2d | |
| rs11549407 | rs11549407 | c.118C>T | CD39 C>T | β0 | Mediterranean | 141900.0312 | 23andMe v4, 23andMe v5, Ancestry v2d |
| rs33974936 | i6012428 | c.114G>A | CD37 G>A | β0 | Saudi Arabian | 141900.0315 | Ancestry v2c |
| rs35004220 | rs35004220 | c.93-21G>A | IVS1-nt110 G>A | β+ | Mediterranean | 141900.0364 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, FTDNA2, HumanOmni1Quad, Ancestry v2d |
| rs35724775 | rs35724775 | c.92+6T>C | IVS1-nt6 T>C | β+ | Mediterranean | 141900.0360 | 23andMe v4, 23andMe v5, 23andMe v3, FTDNA2, HumanOmni1Quad, Ancestry v2d |
| rs33915217 | rs33915217 | c.92+5G>C | IVS1-nt5 G>C | β0 | East Asian, Indian, Pakistani | 141900.0357 | 23andMe v4, 23andMe v5, FTDNA2, HumanOmni1Quad, Ancestry v2d |
| rs33971440 | rs33971440 | c.92+1G>A | IVS1-nt1 G>A | β0 | Mediterranean, Indian | 141900.0346 | 23andMe v4, 23andMe v5, HumanOmni1Quad |
| rs33960103 | rs33960103 | c.92G>C | CD30 G>C (Hb Monroe) | β0 | Mediterranean, African, Pakistani | 141900.0144 | 23andMe v4, 23andMe v5 |
| 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, 23andMe v5, Ancestry v2c |
| rs33972047 | c.59A>G | CD19 G>A (Hb Malay) | β++ | SE Asian, Chinese | 141900.0168 | Ancestry v2, Ancestry v2c, HumanOmni1Quad, Ancestry v2d | |
| rs33986703 | rs33986703 | c.52A>T | CD17 A>T | β0 | Chinese, Japanese | 141900.0311 | 23andMe v4, 23andMe v5, Ancestry v2d |
| rs35662066 | rs35662066 | c.51delC | CD16 G>C | β0 | Indian, Pakistani | 141900.0323 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Ancestry v2d |
| rs34716011 | rs34716011 | c.48G>A | CD15 G>A | β0 | Japanese, Portuguese | 141900.0313 | 23andMe v4, 23andMe v5, 23andMe v3 |
| rs63750783 | rs63750783 | c.47G>A | CD15 G>A | β0 | Indian, Japanese, Pakistani | 141900.0313 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Ancestry v2d |
| rs35699606 | rs35699606 | c.27_28insG | CD8/9 +G | β0 | Indian, Japanese, Pakistani | 141900.0325 | 23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, Ancestry v2d |
| rs35497102 | rs35497102 | c.25_26delAA | CD8 -AA | β0 | Mediterranean | 141900.0322 | 23andMe v4, Ancestry v2, 23andMe v5, 23andMe v3, Ancestry v2d |
| rs334 | i3003137 | CD6 (Hb S) | n/a | 141900.0243 | Ancestry v2d | ||
| rs63749819 | c.20delA | CD6 -A | β0 | Mediterranean, African | 141900.0327 | Ancestry v2, Ancestry v2c, Ancestry v2d | |
| rs33930165 | rs33930165 | c.19G>A | CD6 G>A (Hb C) | n/a | African | 141900.0038 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, HumanOmni1Quad, Ancestry v2d |
| rs34889882 | rs34889882 | c.17_18delCT | CD5 -CT | β0 | Mediterranean, Pakistani | 141900.0332 | 23andMe v4, Ancestry v2, Ancestry v2c, 23andMe v3, Ancestry v2d |
| rs33931746 | c.-78A>C | -28 A>C | β+ | SE Asian, Kurds | 141900.0380 | 23andMe v4, FTDNA2, HumanOmni1Quad | |
| rs33931746 | c.-78A>G | -28 A>G | β+ | SE Asians, Africans | 141900.0381 | 23andMe v4, FTDNA2, HumanOmni1Quad | |
| rs34598529 | rs34598529 | c.-79A>G | -29 A>G | β+ | African, Chinese | 141900.0379 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, FTDNA2, HumanOmni1Quad, Ancestry v2d |
| 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 | Ancestry v2d | |
| rs33944208 | rs33944208 | c.-138C>T | -88 C>T | β++ | African, Pakistani, Indian | 141900.0372 | 23andMe v4, 23andMe v5, HumanOmni1Quad |
| rs63751208 | rs63751208 | c.-151C>T | -101 C>T | β++ | Mediterranean | 141900.0370 | 23andMe v4, Ancestry v2, 23andMe v5, Ancestry v2c, 23andMe v3, Ancestry v2d |
