Version 2.78

Description

A chromosome with a triple alpha-globin loci, counterpart of the -alpha 3.7 deletion, may be present in patients with slight HbA2 enzyme increase and in association with beta-thalassemias. The alpha-globin 3.7kb triplication is an important modulator of the severity of beta-thalassemia trait or beta-thalassemia intermedia, causing globin chain imbalance and therefore exacerbating the phenotypic severity of beta-thalassemia. Co-inheritance of triplicated alpha-globin in beta-heterozygotes often leads to more significant anemia, splenomegaly, more pronounced red cell abnormalities, presence of circulating normoblasts, higher hemoglobin F concentrations, and presence of inclusion bodies in erythroblasts. PMID: 14500599 Source: Regenstrief LOINC

Basic Part Properties

Part Name
HBA2 gene alpha 3.7kb triplication
Part Display Name
HBA2 gene alpha 3.7kb triplication
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-10-24
Construct for LOINC Short Name
HBA2 alpha 3.7kb triple

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP231879-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) HBA2 基因 alpha 3.7kb 三倍化复制
Synonyms: HBA2 基因 alpha 3.7kb 三倍化复制（三倍化）;HBA2 基因 α 3.7kb 三倍化复制;血红蛋白亚单位α2;血红蛋白亚基α2;血红蛋白, α 2;Hemoglobin, alpha 2;HBA2
es-ES Spanish (Spain) Triplicación alfa 3,7kb del gen HBA2
it-IT Italian (Italy) HBA2, gene alpha 3.7kb triplicazione
Synonyms: Gene HBA2 alfa 3.7kb triplicazione
nl-NL Dutch (Netherlands) HBA2-gen alfa 3.7kb triplicatie
Synonyms: HBA2 gen alpha 3.7kb triplicatie