B-Thalassemia mutations in subjects with borderline HbA 2 values: A pilot study in North India

Aruna Rangan, Prashant Sharma, Tina Dadu, Renu Saxena, Ishwar C. Verma, Manorama Bhargava

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Background: Interpreting hemoglobin high performance liquid chromatograms with borderline HbA 2 values is often problematic, especially in antenatal cases if the partner is a known thalassemia trait. Methods: We tested for underlying βthalassemia mutations in 25 subjects with borderline HbA 2 values (between 3.0%-4.0%). Amplification refractory mutation system (ARMS-PCR) was used to detect the five common Indian βthalassemia mutations: (IVS-I-5 (G>C), IVS-I-1 (G>T), codons 8/9 (qG>, codons 41/42 (-TTCT) and 619 bp deletion). βGlobin gene sequencing was performed if no mutation was detected. Results: A βglobin gene defect was identified in 8 (32%) of the 25 cases with HbA 2 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 q1 (A)C) mutation on gene sequencing. IVS-I-1 (G>T) and codons 8/9 (qG> 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.

Original languageEnglish (US)
Pages (from-to)2069-2072
Number of pages4
JournalClinical Chemistry and Laboratory Medicine
Volume49
Issue number12
DOIs
StatePublished - Dec 1 2011

Keywords

  • ARMS-PC.R.
  • Borderline HbA2
  • Gene sequencing
  • HPL.C.
  • India
  • β-thalassemia

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