Version 2.78

Part Description

LP231879-0   HBA2 gene alpha 3.7kb triplication
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

Fully-Specified Name

Component
HBA2 gene alpha 3.7kb triplication
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBA2 alpha 3.7kb triple Bld Ql
Display Name
HBA2 gene alpha 3.7kb triplication Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBA2 gene alpha 3.7kb triplication, Blood

Example Answer List: LL3950-4

Source: Regenstrief LOINC
Answer Code Score Answer ID
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4
AbsentCopyright http://snomed.info/sct ID:2667000 Absent (qualifier value) LA9634-2

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Triplicación alfa 3,7kb del gen HBA2:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Triplicación de 3,7 kb del gen alfa de HBA2:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBA2 gène alpha 3.7kb triplication:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBA2, gene alpha 3.7kb triplicazione:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBA2 Gene HBA2 alfa 3.7 Gene HBA2 alfa 3.7kb triplicazione Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBA2-gen alfa 3.7kb triplicatie:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBA2 gen HBA2 gen alfa 3.7 HBA2 gen alpha 3.7kb triplicatie molgen
zh-CN Chinese (China) HBA2 基因 alpha 3.7kb 三倍化复制:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: HBA1;alpha 2 globin;alpha globin;alpha-2 globin;hemoglobin, alpha 2;alpha 2 球蛋白;alpha 球蛋白;alpha-2 球蛋白;血红蛋白, alpha 2;α2 球蛋白;α球蛋白;α-2 球蛋白;血红蛋白, α2 HBA2 基因 alpha 3.7;HBA2 基因 α 3.7kb 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 α 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因 阿尔法

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=85091-7