Gene:
HBB
hemoglobin, beta

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  None
Alternate Symbols:  CD113t-C; HBD; beta-globin
PharmGKB Accession Id: PA29202

Details

Cytogenetic Location: chr11 : p15.5 - p15.4
GP mRNA Boundary: chr11 : 5246696 - 5248301
GP Gene Boundary: chr11 : 5243696 - 5258301
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. hemoglobins chaperone - (BioCarta via Pathway Interaction Database)

Publications related to HBB: 8

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Individualizing fetal hemoglobin augmenting therapy for beta-type hemoglobinopathies patients. Pharmacogenomics. 2014. Gravia Aikaterini, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic Variants That Confer Resistance to Malaria are Associated with Red Blood Cell Traits in African Americans: An Electronic Medical Record-Based Genome Wide Association Study. G3 (Bethesda, Md.). 2013. Ding Keyue, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Sequential changes in gene expression profiles in breast cancers during treatment with the aromatase inhibitor, letrozole. The pharmacogenomics journal. 2010. Miller W R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants. American journal of human genetics. 2007. Ayodo George, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA method. Malaria journal. 2005. Enevold Anders, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. American journal of human genetics. 2003. Wall Jeffrey D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The lower susceptibility to Plasmodium falciparum malaria of Fulani of Burkina Faso (west Africa) is associated with low frequencies of classic malaria-resistance genes. Transactions of the Royal Society of Tropical Medicine and Hygiene. 2001. Modiano D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Concise review: methemoglobinemia. American journal of hematology. 1993. Mansouri A, et al. PubMed

LinkOuts

Entrez Gene:
3043
OMIM:
140700
141900
603902
603903
604131
UCSC Genome Browser:
NM_000518
RefSeq RNA:
NM_000518
RefSeq Protein:
NP_000509
MutDB:
HBB
ALFRED:
LO000456P
HuGE:
HBB
Comparative Toxicogenomics Database:
3043
ModBase:
Q549N7
HGNC:
4827

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