Version 2.78

Term Description

Alpha-globin is an essential component of the hemoglobin tetramer, starting from the early stages of embryonic development. Deletion mutations involving
one or both of the two alpha-globin genes (alpha1 and alpha2, located on chromosome 16p13) lead to reduced production of alpha-globin chains, and are
the major cause of alpha-thalassemia. Severity of the disease is dependent on the total copy number of functional alpha-globin genes remaining.
This assay detects the seven most common deletions (-alpha3.7, -alpha4.2, -alpha20.5, --SEA, --MED, -FIL, and --THAI) found in patients with alpha-thalassemia. This assay is performed by allele-specific PCR amplification of deletion mutation fragments, followed by agarose gel electrophoresis of the amplification products.
Source: Regenstrief LOINC

Part Descriptions

LP263669-6   HBA1 & HBA2 gene
The HBA1 gene (hemoglobin, alpha 1) [HGNC Gene ID:4823] is located on chromosome 16p13.3. 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) Gene

LP263669-6   HBA1 & HBA2 gene
The HBA2 gene (hemoglobin, alpha 2) [HGNC Gene ID:4824] is located on chromosome 16p13.3. 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:3040] Source: National Center for Biotechnology Information (NCBI) Gene

LP267923-3   HBA1 & HBA2 gene deletion
The HBA1 gene (hemoglobin, alpha 1) [HGNC Gene ID:4823] is located on chromosome 16p13.3. 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) Gene

Fully-Specified Name

Component
HBA1 & HBA2 gene deletion
Property
Find
Time
Pt
System
Amnio fld/CVS
Scale
Doc
Method
Molgen

Additional Names

Short Name
HBA1 + HBA2 Del Amn/CVS
Display Name
HBA1 and HBA2 gene del Molgen Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
HBA1 and HBA2 gene deletion analysis, Amnio Fld/CVS

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBA1 & hba2 Deleción:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Genética molecular
it-IT Italian (Italy) HBA1 & HBA2, gene Delezione:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Molgen
Synonyms: Campione di villi coriali Delezione o duplicazione genica Gene HBA2 Genetica molecolare Geni HBA1 e HBA2 Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
zh-CN Chinese (China) HBA1 与 HBA2 基因 缺失:发现:时间点:羊水/绒毛膜绒毛样本:文档型:分子遗传学类实验室方法
Synonyms: HBA1 & HBA2 基因 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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 遗传基因;遗传因子;吉恩;生物基因

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