LP231879-0
HBA2 gene alpha 3.7kb triplication
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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 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
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- CodeSystem lookup
- https:
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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）; |
| 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 |
LOINC Copyright
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