HBB

hemoglobin subunit beta, the group of Hemoglobin subunits

Basic information

Region (hg38): 11:5225463-5229395

Links

ENSG00000244734

∙ NCBI:3043 ∙ OMIM:141900 ∙ HGNC:4827 ∙ Uniprot:P68871 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

beta thalassemia (Definitive), mode of inheritance: AR
erythrocytosis, familial, 6 (Strong), mode of inheritance: AD
hemoglobin M disease (Moderate), mode of inheritance: AD
beta-thalassemia HBB/LCRB (Definitive), mode of inheritance: Semidominant
sickle cell anemia (Supportive), mode of inheritance: AR
hemoglobin C disease (Supportive), mode of inheritance: AR
hemoglobin E disease (Supportive), mode of inheritance: AR
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (Supportive), mode of inheritance: AD
beta-thalassemia major (Supportive), mode of inheritance: AR
beta-thalassemia intermedia (Supportive), mode of inheritance: AR
dominant beta-thalassemia (Supportive), mode of inheritance: AD
delta-beta-thalassemia (Supportive), mode of inheritance: AR
hemoglobin C-beta-thalassemia syndrome (Supportive), mode of inheritance: AR
hemoglobin E-beta-thalassemia syndrome (Supportive), mode of inheritance: AR
sickle cell-beta-thalassemia disease syndrome (Supportive), mode of inheritance: AR
sickle cell-hemoglobin c disease syndrome (Supportive), mode of inheritance: AR
sickle cell-hemoglobin d disease syndrome (Supportive), mode of inheritance: AR
sickle cell-hemoglobin E disease syndrome (Supportive), mode of inheritance: AR
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome (Supportive), mode of inheritance: AR
hemoglobin M disease (Supportive), mode of inheritance: AD
dominant beta-thalassemia (Strong), mode of inheritance: AD
sickle cell anemia (Strong), mode of inheritance: AR
erythrocytosis, familial, 6 (Strong), mode of inheritance: AD
beta-thalassemia HBB/LCRB (Definitive), mode of inheritance: AR
hemoglobin M disease (Definitive), mode of inheritance: AD
sickle cell disease and related diseases (Definitive), mode of inheritance: AR
dominant beta-thalassemia (Definitive), mode of inheritance: AD
beta-thalassemia HBB/LCRB (Strong), mode of inheritance: AR
Heinz body anemia (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Beta-thalassemia; Heinz body anemias; Erythrocytosis, familial 6; Sickle cell disease; Thalassemia-beta, dominant inclusion body; Other Thalassemias/Hemoglobinopathies	AD/AR/Digenic	Allergy/Immunology/Infectious; Cardiovascular; Hematologic; Pulmonary	For beta-thalassemia, specific treatments (eg, transfusions, medical treatment such as with luspatercept, as well as managing related issues such as potential iron overload), can be effective, and the use of gene therapy has been reported; For Erythrocytosis, phlebotomy has been described as beneficial in some individuals; For sickle cell anemia, surveillance, immune prophylaxis, and preventive measures (eg, hydroxyurea, prophylactic antibiotics) can be effective in reducing morbidity, as well as aid in the prompt recognition and treatment of crises and sequelae, and gene therapy has been described; Variants may also result in a variety of hematologic disease (eg, hemolytic anemia), and genetic diagnosis may aid early recognition and treatment (eg, with RBC transfusion), as well as avoid uneccesary treatments (eg, splenectomy in Heinz body anemia)	Allergy/Immunology/Infectious; Cardiovascular; Genitourinary; Hematologic; Musculoskeletal; Neurologic; Pulmonary	4232783; 4311041; 4351905; 49057; 7137165; 14184033; 1586746; 3048433; 2563949; 1971109; 1707292; 17795074; 1814856; 7715639; 8201467; 8416301; 8704193; 8982148; 10861320; 12614204; 13897827; 15921161; 19036119; 19486366; 20098328; 20301599; 20305663; 21131035; 20301551; 22622672; 22631042; 22645178; 22740566; 22786487; 22857974; 22892550; 22899478; 22923496; 22972063; 23018751; 23076916; 23108767; 32212518; 33283989
The LCRB region is also relevant

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HBB gene.

not provided (1064 variants)
beta Thalassemia (247 variants)
not specified (234 variants)
Hb SS disease (53 variants)
9 conditions (49 variants)
Beta zero thalassemia (45 variants)
Hemoglobinopathy (43 variants)
Beta-plus-thalassemia (34 variants)
Beta-thalassemia HBB/LCRB (28 variants)
Inborn genetic diseases (27 variants)
Fetal hemoglobin quantitative trait locus 1 (19 variants)
Hemoglobin E (16 variants)
Erythrocytosis, familial, 6 (13 variants)
Beta thalassemia intermedia (12 variants)
Dominant beta-thalassemia (11 variants)
Heinz body anemia (9 variants)
Beta-thalassemia major (8 variants)
HBB-related condition (8 variants)
- (7 variants)
HBB-Related Disorders (5 variants)
Malaria, resistance to (3 variants)
Hereditary persistence of fetal hemoglobin (2 variants)
Sickle cell-hemoglobin C disease (2 variants)
Anemia (2 variants)
alpha Thalassemia (2 variants)
HEMOGLOBIN CHEVERLY (1 variants)
HEMOGLOBIN DETROIT (1 variants)
Hemoglobin D disease (1 variants)
HEMOGLOBIN MANUKAU (1 variants)
HEMOGLOBIN TA-LI (1 variants)
HEMOGLOBIN RIO CLARO (1 variants)
HEMOGLOBIN SUMMER HILL (1 variants)
HEMOGLOBIN DEACONESS (1 variants)
HEMOGLOBIN BUNBURY (1 variants)
See cases (1 variants)
HEMOGLOBIN G (GALVESTON) (1 variants)
HEMOGLOBIN STRASBOURG (1 variants)
HEMOGLOBIN MALAY (1 variants)
HEMOGLOBIN M (SASKATOON) (1 variants)
HEMOGLOBIN YAIZU (1 variants)
HEMOGLOBIN CHICO (1 variants)
HEMOGLOBIN RALEIGH (1 variants)
HEMOGLOBIN HOPKINS 1 (1 variants)
HEMOGLOBIN G (ACCRA) (1 variants)
HEMOGLOBIN CITY OF HOPE (1 variants)
HEMOGLOBIN SABINE (1 variants)
HEMOGLOBIN TYNE (1 variants)
Beta-Houston-thalassemia (1 variants)
HEMOGLOBIN PUTTELANGE (1 variants)
HEMOGLOBIN SHERWOOD FOREST (1 variants)
Beta-Malay-thalassemia (1 variants)
HEMOGLOBIN TY GARD (1 variants)
HEMOGLOBIN HIMEJI (1 variants)
HEMOGLOBIN TIGRAYE (1 variants)
HEMOGLOBIN FUKUYAMA (1 variants)
HEMOGLOBIN JOHNSTOWN (1 variants)
HEMOGLOBIN TAK (1 variants)
HEMOGLOBIN HOFU (1 variants)
HEMOGLOBIN G (SAN JOSE) (1 variants)
HEMOGLOBIN KHARTOUM (1 variants)
HEMOGLOBIN LEIDEN (1 variants)
HEMOGLOBIN ATHENS-GEORGIA (1 variants)
HEMOGLOBIN VILLEJUIF (1 variants)
Hb SS disease;beta Thalassemia;Fetal hemoglobin quantitative trait locus 1;Dominant beta-thalassemia (1 variants)
HEMOGLOBIN SHELBY (1 variants)
HEMOGLOBIN AGENOGI (1 variants)
HEMOGLOBIN KOBE (1 variants)
HEMOGLOBIN AUBAGNE (1 variants)
HEMOGLOBIN ABRUZZO (1 variants)
HEMOGLOBIN KENWOOD (1 variants)
HEMOGLOBIN SANTA ANA (1 variants)
HEMOGLOBIN G (TAEGU) (1 variants)
8 conditions (1 variants)
HEMOGLOBIN HELSINKI (1 variants)
HEMOGLOBIN DRENTHE (1 variants)
HEMOGLOBIN LA DESIRADE (1 variants)
HEMOGLOBIN ABRAHAM LINCOLN (1 variants)
HEMOGLOBIN J (LOME) (1 variants)
HEMOGLOBIN RAINIER (1 variants)
HEMOGLOBIN SAALE (1 variants)
Sickle cell-Hemoglobin O Arab disease (1 variants)
HEMOGLOBIN SOUTH FLORIDA (1 variants)
HEMOGLOBIN DEER LODGE (1 variants)
6 conditions (1 variants)
HEMOGLOBIN TAMPA (1 variants)
HEMOGLOBIN JENKINS (1 variants)
HEMOGLOBIN G (SASKATOON) (1 variants)
Hemoglobin E/beta thalassemia disease (1 variants)
HEMOGLOBIN G (MAKASSAR) (1 variants)
HEMOGLOBIN E (SASKATOON) (1 variants)
Hb camperdown (1 variants)
HEMOGLOBIN ALABAMA (1 variants)
HEMOGLOBIN HIKARI (1 variants)
HEMOGLOBIN M (AKITA) (1 variants)
HEMOGLOBIN EGYPT (1 variants)
HEMOGLOBIN SITIA (1 variants)
HEMOGLOBIN VILA REAL (1 variants)
HEMOGLOBIN YUSA (1 variants)
HEMOGLOBIN PERTH (1 variants)
Sickle cell disease and related diseases (1 variants)
HEMOGLOBIN SOUTH MILWAUKEE (1 variants)
HEMOGLOBIN N (TIMONE) (1 variants)
HEMOGLOBIN G (FERRARA) (1 variants)
HEMOGLOBIN HAMMERSMITH (1 variants)
HEMOGLOBIN J (IRAN) (1 variants)
HEMOGLOBIN ANDREW-MINNEAPOLIS (1 variants)
HEMOGLOBIN WASHTENAW (1 variants)
HEMOGLOBIN M (MILWAUKEE 2) (1 variants)
HEMOGLOBIN K (IBADAN) (1 variants)
HEMOGLOBIN SAN DIEGO (1 variants)
Beta-thalassemia, Ashkenazi Jewish type (1 variants)
HEMOGLOBIN MIZUHO (1 variants)
HEMOGLOBIN D (IRAN) (1 variants)
HEMOGLOBIN MUSKEGON (1 variants)
HEMOGLOBIN D (OULED RABAH) (1 variants)
HEMOGLOBIN G (TAIPEI) (1 variants)
HEMOGLOBIN CARIBBEAN (1 variants)
HEMOGLOBIN TENDE (1 variants)
HEMOGLOBIN SYRACUSE (1 variants)
HEMOGLOBIN DENVER (1 variants)
Hemoglobin Lepore trait (1 variants)
HEMOGLOBIN J (BALTIMORE) (1 variants)
HEMOGLOBIN O (ARAB) (1 variants)
HEMOGLOBIN G (COPENHAGEN) (1 variants)
HEMOGLOBIN ROCKFORD (1 variants)
HEMOGLOBIN VALLETTA (1 variants)
HEMOGLOBIN LESLIE (1 variants)
HEMOGLOBIN N (BALTIMORE) (1 variants)
HEMOGLOBIN G (COUSHATTA) (1 variants)
HEMOGLOBIN KNOSSOS (1 variants)
HEMOGLOBIN BRESCIA (1 variants)
Beta-Knossos-thalassemia (1 variants)
HEMOGLOBIN D (IBADAN) (1 variants)
Hb D-Los Angeles (1 variants)
HEMOGLOBIN HYOGO (1 variants)
HEMOGLOBIN D (GRANADA) (1 variants)
HEMOGLOBIN BEIRUT (1 variants)
Hemoglobin E disease (1 variants)
HEMOGLOBIN SHOWA-YAKUSHIJI (1 variants)
HEMOGLOBIN G (TEXAS) (1 variants)
HEMOGLOBIN YAOUNDE (1 variants)
HEMOGLOBIN OLMSTED (1 variants)
HEMOGLOBIN N (JENKINS) (1 variants)
HEMOGLOBIN PORTO ALEGRE (1 variants)
HEMOGLOBIN N (SEATTLE) (1 variants)
HEMOGLOBIN CHIBA (1 variants)
HEMOGLOBIN LAS PALMAS (1 variants)
HEMOGLOBIN PYRGOS (1 variants)
HEMOGLOBIN CAMDEN (1 variants)
Hemoglobin Zurich (1 variants)
HEMOGLOBIN CRETE (1 variants)
HEMOGLOBIN SAKI (1 variants)
HEMOGLOBIN M (HYDE PARK) (1 variants)
Beta-plus-thalassemia, dominant (1 variants)
Methemoglobinemia, beta-globin type (1 variants)
HEMOGLOBIN ERNZ (1 variants)
Delta-beta-thalassemia (1 variants)
HEMOGLOBIN S (1 variants)
HEMOGLOBIN HAMILTON (1 variants)
HEMOGLOBIN GRANGE-BLANCHE (1 variants)
HEMOGLOBIN PIERRE-BENITE (1 variants)
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE (1 variants)
Thalassemia (1 variants)
Erythrocytosis (1 variants)
HEMOGLOBIN DURHAM-N.C. (1 variants)
HEMOGLOBIN SOGN (1 variants)
HEMOGLOBIN C (1 variants)
HEMOGLOBIN KORLE-BU (1 variants)
HEMOGLOBIN TOKUCHI (1 variants)
HEMOGLOBIN MOTOWN (1 variants)
HEMOGLOBIN GENOVA (1 variants)
Beta-Showa-Yakushiji thalassemia (1 variants)
HEMOGLOBIN BETHESDA (1 variants)
Beta-thalassemia, lermontov type (1 variants)
HEMOGLOBIN G (PORT ARTHUR) (1 variants)
HEMOGLOBIN COLIMA (1 variants)
HEMOGLOBIN G (HSIN-CHU) (1 variants)
Atypical hemolytic-uremic syndrome (1 variants)
Persistence of hemoglobin F;Reduced beta/alpha synthesis ratio;Anemia;Abnormal hemoglobin (1 variants)
HEMOGLOBIN VOLGA (1 variants)
HEMOGLOBIN OLYMPIA (1 variants)
HEMOGLOBIN NEW MEXICO (1 variants)
HEMOGLOBIN K (WOOLWICH) (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HBB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous		2 clinvar	4 clinvar	87 clinvar	1 clinvar	94
missense	33 clinvar	23 clinvar	97 clinvar	21 clinvar		174
nonsense	17 clinvar	1 clinvar	1 clinvar			19
start loss	3 clinvar	3 clinvar				6
frameshift	37 clinvar	28 clinvar	1 clinvar	1 clinvar		67
inframe indel		1 clinvar	2 clinvar			3
splice donor/acceptor (+/-2bp)	13 clinvar	6 clinvar				19
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)	3	4	6	10		23
non coding ? UTR, intron and other, non coding variants	17 clinvar	16 clinvar	87 clinvar	538 clinvar	13 clinvar	671
Total	120	80	192	647	14

Highest pathogenic variant AF is 0.0127

Variants in HBB

This is a list of pathogenic ClinVar variants found in the HBB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
11-5225466-G-A	not specified	Conflicting classifications of pathogenicity (Aug 09, 2022)	439130
11-5225466-G-T	not specified • 9 conditions	Uncertain significance (Mar 23, 2023)	1343492
11-5225465-TGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG-T		Pathogenic (Dec 16, 2019)	862436
11-5225465-TGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA-T		Pathogenic (Nov 26, 2018)	660167
11-5225469-A-T		Uncertain significance (May 22, 2023)	801181
11-5225481-G-A	not specified	Uncertain significance (Jun 29, 2022)	1698654
11-5225481-GT-G	Beta-plus-thalassemia	Pathogenic (Jun 01, 1992)	15474
11-5225481-GTT-G	beta Thalassemia	Pathogenic (Nov 25, 2019)	869259
11-5225481-G-GT	not specified	Uncertain significance (Sep 04, 2018)	439131
11-5225483-T-G		Uncertain significance (Apr 08, 2016)	495967
11-5225483-TTTTTA-T	Beta-plus-thalassemia • beta Thalassemia	Pathogenic (Nov 25, 2019)	15506
11-5225485-T-C	Beta-plus-thalassemia • beta Thalassemia	Pathogenic/Likely pathogenic (Oct 17, 2023)	15473
11-5225486-T-A	not specified	Uncertain significance (Oct 15, 2022)	1723320
11-5225486-T-C	Beta-plus-thalassemia	Pathogenic (Jul 20, 2016)	15476
11-5225486-TTA-T	beta Thalassemia	Pathogenic/Likely pathogenic (Jul 28, 2022)	632843
11-5225487-T-C	Beta-plus-thalassemia • beta Thalassemia • Hemoglobinopathy	Pathogenic (Dec 21, 2023)	15488
11-5225487-T-TC	Beta-plus-thalassemia	Pathogenic (Jul 20, 2016)	15475
11-5225488-A-G	Beta-plus-thalassemia • beta Thalassemia • Hb SS disease	Pathogenic (Dec 12, 2023)	36332
11-5225488-A-T	Beta-plus-thalassemia	Pathogenic (Aug 01, 2004)	15616
11-5225490-T-C	beta Thalassemia	Pathogenic (Nov 25, 2019)	869258
11-5225492-GGCAGAATCCAGAT-G	beta Thalassemia	Pathogenic (Nov 25, 2019)	869261
11-5225494-C-T	not specified • Beta-thalassemia HBB/LCRB	Uncertain significance (Aug 24, 2021)	618161
11-5225496-G-A	not specified	Uncertain significance (Apr 12, 2019)	495966
11-5225501-C-G	not specified	Uncertain significance (Feb 15, 2021)	811372
11-5225502-A-G	beta Thalassemia • HBB-related condition	Conflicting classifications of pathogenicity (Jan 31, 2024)	36331

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HBB	protein_coding	protein_coding	ENST00000335295	3	3932

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.23e-9	0.00776	125380	0	366	125746	0.00146

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.211	81	75.8	1.07	0.00000386	954
Missense in Polyphen		11	19.547	0.56273		288
Synonymous	-3.80	61	33.2	1.84	0.00000193	306
Loss of Function	-2.97	10	3.77	2.65	1.63e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000749	0.000749
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00343	0.00338
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.00113	0.00113
Middle Eastern	0.00343	0.00338
South Asian	0.00493	0.00494
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in oxygen transport from the lung to the various peripheral tissues. {ECO:0000269|PubMed:28066926}.; FUNCTION: Spinorphin: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.;
Disease: DISEASE: Heinz body anemias (HEIBAN) [MIM:140700]: Form of non- spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. {ECO:0000269|PubMed:186485, ECO:0000269|PubMed:2599881, ECO:0000269|PubMed:6259091, ECO:0000269|PubMed:8704193}. Note=The disease may be caused by mutations affecting the gene represented in this entry.; DISEASE: Beta-thalassemia (B-THAL) [MIM:613985]: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta- thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic. {ECO:0000269|PubMed:12144064, ECO:0000269|PubMed:12149194, ECO:0000269|PubMed:15481886, ECO:0000269|PubMed:2399911, ECO:0000269|PubMed:6166632, ECO:0000269|PubMed:7693620}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Sickle cell anemia (SKCA) [MIM:603903]: Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues. {ECO:0000269|PubMed:1195378, ECO:0000269|PubMed:13464827, ECO:0000269|PubMed:16001361, ECO:0000269|PubMed:24100324, ECO:0000269|Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Beta-thalassemia, dominant, inclusion body type (B- THALIB) [MIM:603902]: An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. {ECO:0000269|PubMed:1971109}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: African trypanosomiasis - Homo sapiens (human);Malaria - Homo sapiens (human);Selenium Micronutrient Network;Vitamin B12 Metabolism;Folate Metabolism;Neutrophil degranulation;Vesicle-mediated transport;hemoglobins chaperone;Innate Immune System;Immune System;O2/CO2 exchange in erythrocytes;Transport of small molecules;Erythrocytes take up oxygen and release carbon dioxide;Erythrocytes take up carbon dioxide and release oxygen;Scavenging of heme from plasma;Binding and Uptake of Ligands by Scavenger Receptors (Consensus)

Recessive Scores

pRec: 0.0820

Intolerance Scores

loftool: 0.00951
rvis_EVS: -0.01
rvis_percentile_EVS: 53.51

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.173
ghis: 0.495

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.741

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Hbb-bt
Phenotype

Gene ontology

Biological process: receptor-mediated endocytosis;blood coagulation;regulation of blood pressure;positive regulation of cell death;oxygen transport;bicarbonate transport;nitric oxide transport;response to hydrogen peroxide;hydrogen peroxide catabolic process;neutrophil degranulation;positive regulation of nitric oxide biosynthetic process;regulation of blood vessel size;protein heterooligomerization;renal absorption;platelet aggregation;cellular oxidant detoxification
Cellular component: extracellular region;extracellular space;cytosol;hemoglobin complex;haptoglobin-hemoglobin complex;extracellular exosome;endocytic vesicle lumen;blood microparticle;tertiary granule lumen;ficolin-1-rich granule lumen
Molecular function: peroxidase activity;oxygen carrier activity;protein binding;oxygen binding;heme binding;hemoglobin binding;haptoglobin binding;hemoglobin alpha binding;organic acid binding;metal ion binding