Version 2.78

Descriptions

Hemoglobin Beta locus (HBB) gene mutation analysis for carrier status determination and diagnosis in hemoglobin S and C disease. Source: Regenstrief Institute

The HBB gene (hemoglobin, beta) [HGNC Gene ID:4827] is located on chromosome 11p15.5. The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3043] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
HBB gene
Part Display Name
HBB gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
HBB gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19719-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19719-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) HBB 基因
Synonyms: Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血
et-EE Estonian (Estonia) HBB geen
es-ES Spanish (Spain) Gen HBB
it-IT Italian (Italy) HBB, gene
Synonyms: Gene HBB
tr-TR Turkish (Turkey) HBB geni
ru-RU Russian (Russian Federation) HBB ген
nl-NL Dutch (Netherlands) HBB-gen
Synonyms: HBB gen
fr-CA French (Canada) Gène HBB