Evaluation of the validity of the pre-marriage Mean Corpuscular Volume value as a predictive test for β-thalassemia carrier status

  • Ali A. Almomani Department of Medical Laboratory Sciences, Al-Ahliyya Amman University, Zip code (19328), Amman, Jordan. Pharmacological and diagnostic research center, Al-Ahliyya Amman University, Zip code (19328), Amman, Jordan.
  • Ala'a S. Shraim Department of Medical Laboratory Sciences, Faculty of Allied Medical Sciences, Al-Ahliyya Amman University, 19328, Amman, Jordan. https://orcid.org/0000-0001-7021-8847
  • Ali M. Atoom
  • Jehad F. Alhmoud
Keywords: premarital screening test, β –thalassemia minor, HPLC, HbA2, MCV, RDW, and RBC count

Abstract


Background: The national mandatory premarital screening test is based on MCV > 80fL value for the detection of β-thalassemia to provide acceptance for marriage. The objective of this study is to assess the efficacy of MCV as a screening test for β-thalassemia trait in the present population. Methods: This study was conducted on 418 blood samples collected from adult individuals. The diagnosis of β‐thalassemia carrier was given to those having HbA2 values equal to or above 3.5%. The diagnostic reliability of different RBC indices and formulas in discriminating cases of β-thalassemia trait were evaluated. Finally, a new index called “Momani” was determined based on MCV, RDW and RBC count. Results:  β-thalassemia trait was identified in 10 % of the cases. The measured MCV value was significantly lower in β-thalassemia carrier group compared to non-carrier group (p = <0.001). MCV value and RBC count showed a higher diagnostic reliability than other RBC indices. We found that MCV ≤ 74.45fl is more suitable cut off value of MCV with 86.2% specificity, 71.4% sensitivity, 36.6% positive predictive value, and 96.4% negative predictive value. Finally, our index “Momani” was found to be useful in predicting carrier and paralleled the performance of Sirdah, Mentzer, and Ehsani indices. Conclusion: MCV<80 is a useful but not a perfect cut-off point for the screening of β-thalassemia carriers from non-carriers. The diagnostic accuracy of MCV can be improved by selecting a new cutoff value. Moreover, “Momani” index shows good discrimination ability in diagnosing β -thalassemia carrier in our population.

Author Biography

Ala'a S. Shraim, Department of Medical Laboratory Sciences, Faculty of Allied Medical Sciences, Al-Ahliyya Amman University, 19328, Amman, Jordan.

Assistant Professor in Biochemistry 

Department of Medical Laboratory Sciences, Faculty of Allied Medical Sciences, Al-Ahliyya Amman University, 19328, Amman, Jordan.

References

1. Keber B, Lam L, Mumford J, Flanagan B. Hematologic Conditions: Common Hemoglobinopathies. FP essentials, 2019; 485, 24-31.

2. Modell B, Darlison M J. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008; 86, 480-487.

3. De Sanctis V, Kattamis C, Canatan D, Soliman A T, Elsedfy H, Karimi M. β-thalassemia distribution in the old world: an ancient disease seen from a historical standpoint. Mediterr J Hematol Infect Dis 2017: 9 (1).

4. Aydinok Y J H. Thalassemia. Hematology 2012; 17(sup1), s28-s31.
5. Angastiniotis M, Lobitz S J. Thalassemias: An Overview. Int J Neonatal Screen 2019; 5(1), 16.


6. Hamamy HA, Al-Allawi NA. Epidemiological profile of common haemoglobinopathies in Arab countries. J Community Genet. 2013;4(2):147-167.

7. Hamamy H, Al-Hait S, Alwan A, Ajlouni K. Jordan: communities and community genetics. Community Genet. 2007;10(1):52-60.

8. Higher health council. The National Strategy for Health Sector in Jordan 2015–2019. Available online: URL: https://www.fpfinancingroadmap.org/resources/jordan-national-health-sector-strategy-2015-2019.

9. Mendiratta S, Bajaj S, Popli S, Singh S. Screening of women in the antenatal period for thalassemia carrier status: comparison of NESTROFT, red cell indices, and HPLC analysis. J. Fetal Med 2015, 2(1), 21-25.

10. Khera R, Singh T, Khuana N, Gupta N, Dubey A J. HPLC in characterization of hemoglobin profile in thalassemia syndromes and hemoglobinopathies: a clinicohematological correlation. Indian J Hematol Blood Transfus. 2015, 31(1), 110-115.

11. Baliyan M, Kumar M, Nangia A, Parakh N J. Can RBC indices be used as screening test for beta-thalassemia in indian antenatal women? J Obstet Gynaecol India. 2019, 69(6), 495-500.

12. Hinda D, Qubbaj W, Abu Rubeiha Z, Shboul M, Natasha S, El-Khateeb M. β-Thalassemia: Prevention in Jordan. Available online: URL: https://www.ncd.org.jo/docs/genetics/B-Thalassemia.pdf.

13. Brancaleoni V, Di Pierro E, Motta , Cappellini M. Laboratory diagnosis of thalassemia Int J Lab Hematol. 2016, 38, Suppl 1:32-40.

14. Barrett A N, Saminathan R, Choolani M. Thalassaemia screening and confirmation of carriers in parents. Best Pract Res Clin Obstet Gynaecol. 2017, 39, 27-40.

15. Keohane E M, Otto C N, Walenga J M. Rodak's Hematology-E-Book: Clinical Principles and Applications, 6th ed.; Elsevier Health Sciences, Canada, 2019.

16. Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis, 2010; 5, 11.

17. Jayabose S, Giamelli J, Levondoglu-Tugal O, Sandoval C, Ozkaynak F, Visintainer P. Differentiating iron deficiency anemia from thalassemia minor by using an RDW-based index. J Ped Hematol Oncol 1999, 21:314.

18. Nah E.-H, Kim S, Cho S, Cho H. Complete Blood Count Reference Intervals and Patterns of Changes Across Pediatric, Adult, and Geriatric Ages in Korea. Ann Lab Med. 2018, 38(6), 503-511.
19. Karimi M, Rasekhi A J. Efficiency of premarital screening of beta-thalassemia trait using MCH rather than MCV in the population of Fars Province, Iran. Haematologia 32.2, 2002, 32(2), 129-134.

20. Bhargava M, Kumar V, Pandey H, Singh, V, Misra V, Gupta P. Role of Hematological Indices as a Screening Tool of Beta Thalassemia Trait in Eastern Uttar Pradesh: An Institutional Study. Indian J Hematol Blood Transfus. 2020, 36(4), 719-724.

21. Bordbar E, Taghipour M, Zucconi B E. Reliability of Different RBC Indices and Formulas in Discriminating between β-Thalassemia Minor and other Microcytic Hypochromic Cases. Mediterr J Hematol Infect Dis. 2015, 7(1), e2015022.

22. Cousens N E, Gaff C L, Metcalfe S A, Delatycki M B. Carrier screening for beta-thalassaemia: a review of international practice. Eur J Hum Genet 2010; 18(10), 1077-1083.

23. Mentzer WC. Differentiation of iron deficiency from thalassemia trait. Lancet 1973,1, 882.

24. Shine I, Lal S. A strategy to detect beta-thalassemia minor. Lancet 1977, 1, 692–694.

25. England J M, Fraser P M. Differtentiation of iron deficiency from thalassemia trait by routine blood count. Lancet 1973, 1, 449–452.

26. Green R, King R. A new red cell discriminant incorporating volume dispersion for differentiating iron deficiency anemia from thalassemia minor. Blood Cells 1989.15, 481–495.

27. Srivastava P C, Bevington J M. Iron deficiency and/or thalassemia trait. Lancet 1973,1, 832.

28. Ricerca B M, Storti S, d’Onofrio G, Mancini S, Vittori M, Campisi S, Mango G, Bizzi B. Differentiation of iron deficiency from thalassemia trait: a new approach. Haematologica 1987, 72: 409–413.

29. Sirdah M, Tarazi I, Al Najjar E, Al Haddad R. Evaluation of the diagnostic reliability of different RBC indices and formulas in the differentiation of the beta-thalassaemia minor from iron deficiency in Palestinian population. Int J Lab Hematol. 2007, 30(4):324–330.

30. Ehsani M, Darvish A, Aslani A, Seighali F. A new formula for differentiation of iron deficiency anemia (IDA) and thalassemia trait (TT). Turk J Hematol 2005, (Suppl) 22, 268.

31. Telmissani O A, Khalil S, George T R. Mean density of hemoglobin per liter of blood: a new hematologic parameter with an inherent discriminant function. Laboratory Hematology 1999, 5, 149–152.

32. Jayabose S, Giamelli J, Levondoglu-Tugal O, Sandoval C, Ozkaynak F, Visintainer P. Differentiating iron deficiency anemia from thalassemia minor by using an RDW-based index. J Ped Hematol Oncol. 1999, 21:314.
Published
2022/08/30
Section
Original paper