Version 2.80

Description

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5 '- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3039] Source: National Center for Biotechnology Information (NCBI) Books

Basic Part Properties

Part Name
Alpha globin gene cluster & HS-40 region
Part Display Name
Alpha globin gene cluster and HS-40 region
Part Type
Component (Describes the core component or analyte measured)
Created On
2019-05-03
Construct for LOINC Short Name
Alpha globin genes + HS-40

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP343939-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) Alpha 珠蛋白基因簇 & HS-40 区域
Synonyms: α珠蛋白基因簇 & HS-40 区域
it-IT Italian (Italy) cluster genico alfa globina & regione HS-40
Synonyms: cluster genico della alfa globina e regione HS-40
es-ES Spanish (Spain) Grupo de genes de alfa globina y región HS-40
el-GR Greek (Greece) Σύμπλεγμα γονιδίου α σφαιρίνης & περιοχή HS-40
Synonyms: Σύμπλεγμα γονιδίου α σφαιρίνης & περιοχή HS-40