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

Neha Singh; Nilotpal Chowdhury; Anupama Bahadur; Sana Ahuja; Kunnumbrath Arathi; Reshma Jeladharan; Anissa A Mirza; Arvind K Gupta; Harish Chandra; Shalinee Rao

doi:10.7759/cureus.40667

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

Cureus. 2023 Jun 19;15(6):e40667. doi: 10.7759/cureus.40667. eCollection 2023 Jun.

Authors

Affiliations

¹ Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Rishikesh, IND.
² Obstetrics and Gynecology, All India Institute of Medical Sciences, Rishikesh, IND.
³ Oncopathology, Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, IND.
⁴ Pathology, Employees' State Insurance Corporation (ESIC) Medical College and Post Graduate Institute of Medical Sciences and Research (PGIMSR), Chennai, IND.
⁵ Biochemistry, All India Institute of Medical Sciences, Rishikesh, IND.

Abstract

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.

Keywords: antenatal screening; hba2; hemoglobinopathies; hplc; thalassemia; β-thalassemia trait.