Abstract | BACKGROUND: Interpreting hemoglobin high performance liquid chromatograms with borderline HbA₂ values is often problematic, especially in antenatal cases if the partner is a known thalassemia trait. METHODS: We tested for underlying β- thalassemia mutations in 25 subjects with borderline HbA₂ values (between 3.0%-4.0%). Amplification refractory mutation system (ARMS-PCR) was used to detect the five common Indian β- thalassemia mutations: (IVS-I-5 (G>C), IVS-I-1 (G>T), codons 8/9 (+G), codons 41/42 (-TTCT) and 619 bp deletion). β- Globin gene sequencing was performed if no mutation was detected. RESULTS: A β- globin gene defect was identified in 8 (32%) of the 25 cases with HbA₂ levels ranging from 3.5%-3.9%. ARMS-PCR revealed IVS-I-5 (G>C) in three, 619 bp deletion in two and codons 41/42 (-TTCT) in one case. Two cases had CAP +1 (A>C) mutation on gene sequencing. IVS-I-1 (G>T) and codons 8/9 (+G) were not found in this small cohort. CONCLUSIONS: Mutation analysis should be offered to all at-risk couples with borderline HbA₂, especially those with values between 3.5% and 4.0% and microcytic hypochromic indices. Significant mutations different from those in other ethnic populations were seen in this small institution-based study.
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Authors | Aruna Rangan, Prashant Sharma, Tina Dadu, Renu Saxena, Ishwar C Verma, Manorama Bhargava |
Journal | Clinical chemistry and laboratory medicine
(Clin Chem Lab Med)
Vol. 49
Issue 12
Pg. 2069-72
(Sep 06 2011)
ISSN: 1437-4331 [Electronic] Germany |
PMID | 21892914
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Hemoglobin A2
(analysis)
- Humans
- India
- Infant
- Middle Aged
- Mutation
- Pilot Projects
- Risk Factors
- Sequence Deletion
- Young Adult
- beta-Thalassemia
(diagnosis, genetics)
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