85091-7

HBA2 gene alpha 3.7kb triplication [Presence] in Blood by Molecular genetics method

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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

LOINC Names Get Info

Fully-Specified Name: HBA2 gene alpha 3.7kb triplication:PrThr:Pt:Bld:Ord:Molgen
Long Common Name: HBA2 gene alpha 3.7kb triplication [Presence] in Blood by Molecular genetics method
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

Part Model Get Info

Component
HBA2 gene alpha 3.7kb triplication
LP231879-0
- Analyte
  HBA2 gene alpha 3.7kb triplication
  LP231879-0
  - Component Numerator
    HBA2 gene alpha 3.7kb triplication
    LP231879-0
    - Component Numerator Core
      HBA2 gene alpha 3.7kb triplication
      LP231879-0
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
PrThr
LP217195-9
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld
LP7057-5
- System Core
  Bld
  LP7057-5
- Super System
  NULL
Scale
Ord
LP7751-3
Method
Molgen
LP6404-0

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 (ADD)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen HBA2 alfa 3.7kb triplikace:Přítomnost nebo práh:Časový bod:Krev:Ordinální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο HBA2 alpha 3.7kb τριπλασιασμός:PrThr:Pt:Αίμα:Ord:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Γονίδιο Γονίδιο HBA2 Γονίδιο HBA2 alpha 3.7kb Γονίδιο HBA2 alpha 3.7kb τριπλασιασμός Μοριακή γενετική
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
pl-PL	Polish (Poland)	HBA2 gen alfa 3,7kpz triplikacja:granica wykrywalności:punkt w czasie:krew:uporządkowany:genetyka molekularna Synonyms: diagnostyka molekularna Gen HBA2 alfa 3,7kpz Gen HBA2;Gen podjednostki alfa 2 hemoglobiny Potrojenie genu HBA2 alfa 3,7kpz
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

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.