102091-6
HBA1 and HBA2 gene full mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method
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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
Fully-Specified Name
- Component
- HBA1 & HBA2 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Amnio fld/CVS
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- HBA1 + HBA2 Full Mut Anl Amn/CVS
- Display Name
- HBA1 and HBA2 gene full mutation analysis Molgen Doc (Amnio fld/CVS)
- Consumer Name Alpha Get Info
- HBA1 and HBA2 gene variant analysis, Amnio Fld/CVS
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.75
- Last Updated
- Version 2.75
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen HBA1 & hba2 Análisis de mutación completa: |
| fr-FR | French (France) | HBA1 et HBA2 gènes analyse complète des mutations: |
| it-IT | Italian (Italy) | HBA1 & HBA2, gene Analisi di mutazione completa: Synonyms: Campione di villi coriali 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 全面突变分析: Synonyms: HBA1 & |
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