Prevalence of Gene Frequency in Haemoglobinopathies and Blood Groups in Uttarakhand

Malik, Anil Kumar; Suhalka, Moti Lal; Sinha, Anant Narayan

doi:10.5958/2320-608x.2018.00095.1

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“…They reported the incidence of BTT to be 1.5%, using a cut-off of 3.5% for HbA2. Malik et al [ 9 ] reported a 4.2% prevalence of hemoglobinopathies in the state [ 9 ]. In the present study, we found a 2.6% incidence of BTT and 0.2% of HbD Punjab trait amongst antenatal women in this region.…”

Section: Discussionmentioning

confidence: 99%

“…There is a lack of substantial data pertaining to the prevalence of Hb disorders in the Uttarakhand region of India. Only a few published studies from this region are available in the literature, which are unable to comprehensively reflect the magnitude of the problem in this hilly state [7][8][9]. Nayar et al [7] screened 8144 individuals from the Garhwal region and found BTT to be the commonest of these disorders here, with an incidence of 2.82%, followed by HbD Punjab (0.55%) and HbE trait (0.42%).…”

Section: Discussionmentioning

confidence: 99%

“…β thalassemia is the most common thalassemia syndrome reported in India, along with some hemoglobinopathies being encountered primarily in certain regions/states of the country, like hemoglobin S (HbS) in Orissa, hemoglobin D (HbD) in Punjab, and hemoglobin E (HbE) in the north-eastern states [3,5]. The data pertaining to the prevalence and spectrum of Hb disorders in the Uttarakhand region of India are sparse, and a pertinent literature search revealed only a few published studies on the thalassemia syndromes and hemoglobinopathies that prevail in this region [7][8][9][10]. Since antenatal women are the group likely to benefit the most from screening for these inherited Hb disorders, therefore this study was conducted on pregnant women.…”

Section: Introductionmentioning

confidence: 99%

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Thalassemia and Hemoglobinopathy Screening in Women Attending Antenatal Clinic at a Tertiary Care Center in Uttarakhand, India: A Re-look at the Laboratory Parameters Mandating High-Performance Liquid Chromatography Workup

Singh¹,

Chowdhury²,

Bahadur³

et al. 2023

Cureus

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Introduction: Thalassemia and hemoglobinopathies are the most common inherited hematological disorders. Of these, β thalassemia is the commonest disorder reported in India, followed by certain hemoglobinopathies encountered in different regions of the country. The data pertaining to the incidence of these disorders in the Uttarakhand region of India are sparse. Aim and objectives: To ascertain the prevalence and spectrum of thalassemia/hemoglobinopathies amongst antenatal women in Uttarakhand. The study also aimed to analyze the ability of red cell indices in differentiating beta thalassemia trait (BTT) from mild iron deficiency anemia (IDA). Material and methods: A total of 460 pregnant women in the first trimester of pregnancy were screened by cation exchange high-performance liquid chromatography. Retention time and proportions of normal/abnormal hemoglobin peaks were documented in all cases. Hemoglobin A2 (HbA2) values of ≥4% were taken as a cut-off for diagnosing BTT. Blood samples were also collected for complete blood counts, reticulocyte counts, and serum ferritin. The ability of the various discriminatory indices to differentiate between IDA and BTT was also assessed. Results: The prevalence of BTT and hemoglobin D-Punjab trait amongst pregnant women was found to be 2.6% and 0.2%, respectively. RBC count, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) were found to be moderately strong predictors of BTT, with an area under the curve of 0.860, 0.857, and 0.842, respectively, which were comparable to the discriminatory indices found to be most useful in this study. Conclusion: In view of the 2.6% prevalence of BTT in antenatal women in this region of Uttarakhand, a routine screening will be helpful in detecting carriers early in the antenatal period. Careful interpretation of red cell indices is crucial to the distinction between BTT and IDA. Discriminatory indices are reasonably accurate in differentiating BTT from mild iron deficiency, but for practical purposes, MCV and MCH provide equivalent information to identify cases that require further workup.

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Section: Discussionmentioning

confidence: 99%