Uji Validitas Panel Pemeriksaan Mean Corpuscular Volume, Indeks Mentzer dan Fragilitas Osmotik Tabung Tunggal untuk Skrining Talasemia Minor terhadap Pemeriksaan HbA2 Menggunakan High Performance Liquid Chromatography

Fridayenti - Fridayenti, Nadjwa Zamalek Dalimoenthe, Delita Prihatni, Nina Susana Dewi

Abstract

Thalassemia is a disease caused by reduced or loss of synthesis of globin chains and then hemoglobin becomes abnormal. Characteristic screening in the population needs to be done to prevent marriage among people with thalassemia minor and reduce the birth of babies with thalassemia mayor. Combining several simple tests such as MCV, Mentzer index and single tube osmotic fragility test can increase the effectiveness of the test for screening of thalassemia minor. The purpose of this study was to determine the sensitivity and specificity of each panel for MCV-Mentzer index, MCV-single tube osmotic fragility, and Mentzer index- single tube osmotic fragility test panel against HbA2 in screening for the thalassemia minor. This study is observational with cross-sectional study design. The study was conducted at the Clinical Pathology Laboratory of Arifin Achmad Hospital Pekanbaru in June-August 2020. There were 27 subjects who had MCV values <80 fl out of 230 screened subjects. Then on 27 research subjects were calculated for Mentzer index, single tube osmotic fragility test and HPLC. The research results show the sensitivity, specificity, positive predictive value and negative predictive value of the MCV-Mentzer index panel for screening of thalassemia minor were 11.8%, 90%, 66.7% and 37.5%, respectively. For the MCV-single tube osmotic fragility panel was, respectively, 70.6%, 20%, 60% and 28.6% and for the Mentzer index- single tube osmotic fragility panel was 11.8%, 90%, 66, 7% and 37.5% respectively. The conclusion is that the MCV-single tube osmotic fragility panel has better sensitivity than the MCV-Mentzer index panel or the Menzer index-single tube osmotic fragility panel that it can be used to screen for thalassemia minor in the premarital population in Pekanbaru. 

References

Weatherall DJ, Clegg JB. The thalassaemia syndromes. Oxford, Blackwell Science, 2001. https://doi.org/10.1002/9780470696705

Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bulletin of the World Health Organization, 2001;79(8).

Fucharoen S, Winichagoon. Haemoglobinopathies in Southeast Asia. Indian J Med Res. 2011 Oct; 134(4): 498–506

RRI.co.id (2019) Catatan Kemenkes Menyebutkan Angka Penderita Talasemia Masih Tinggi. Diakses dari http://rri.co.id/post/berita/674133/kesehatan/catatan_kemenkes_menyebutkan_ angka_penderita_talasemia_masih_tinggi.html

Bajwa H, Basit H. Thalassemia. [Updated 2019 Aug 20]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan

Northen California Comprehensive Thalassemia Centre. The Inheritance of Thalassemia. Diakses dari https://thalassemia.com/genetics- inheritance.aspx#gsc.tab=0

Ghosh K, Colah R, Manglani M, Choudhry VP, Verma I, Madan N, et al. Guidelines for screening, diagnosis and management of hemoglobinopathies. Indian J Hum Genet. 2014 Apr;20(2):101-19

Brancaleoni V, Di Piero E, Motta I, Capellini. Laboratory Diagnosis Of Thalassemia. 016 John Wiley & Sons Ltd, Int. Jnl. Lab. Hem. 2016, 38 (Suppl. 1), 32–40

Young KL, Hee-Jin K, Kyunghoon L, Sang Hyuk P, Sang Hoon S, Moon WS et al. Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology . Blood Res 2019; 54:17-22

Giambona A, Passarello C, Renda D, Maggio A. The significance of the hemoglobin A(2) value in screening for hemoglobinopathies. Clin Biochem. 2009; 42(18):1786-96

Arora S, Kolte S, Rana D, Dawson L. Validation of new indices for differentiation between iron deficiency anemia and beta thalessemia trait, a study in pregnant females. International Journal of Scientific Report 4(2):26 · January 2018

Vehapoglu A, Ozgurhan A, Demir AD, Uzuner S, Nursoy MA, Turkmen S, Kacan A. Hematological Indices for Differential Diagnosis of Beta Thalassemia Trait and Iron Deficiency Anemia. Hindawi Publishing Corporation. Volume 2014, Article ID 576738, 7 pages http://dx.doi.org/10.1155/2014/576738

Ghafouri M. Sharifi L.Sefat LM. Comparison of cell counter indices in differention of beta thalassemia trait and iron deficiency anemia. Diakses dari https://www.researchgate.net/publication/309476203_Comparison_of_cell_counter_indices_in_differention_of_beta_thalassemia_trait_and_iron_deficiency_anemia

Macioni L, Cao A. Osmotik fragility test in heterozygotes for and thalassaemia. Journal of Medical Genetics. 1985; 22 ; 374-6

Bujang MA, Adnan TH. Requirements for minimum sample size for sensitivity and specificity analysis. Journal of Clinical and Diagnostic Research. 2016;10(10): 01-06

Thorner, RM, Remein QR. Principles and procedures in the evaluation of screening for Disease Diakses dari https://www.cabdirect.org/cabdirect/abstract/196627005641

Husna N, Sanka I, Arif AA, Putri C, Leonard E, Satuti N, Handayani N. Prevalence and distribution of thalassemia trait screening. Journal of The Medical Sciences. 2017; 49(3).106-13.

Nuryanti, Ganie RA, Aman AK. β-Thalassemia trait menggunakan elektroforesis mikrokapiler. Indonesian Journal of Clinical Pathology and Medical Laboratory.2015; 21(2).

Madan N, Beachler L, Konstantinopoulos P, Worley S, Sun Z, Latson LA. Red cell indices and discriminant functions in the detection of beta- thalassaemia trait in a population with high prevalence of iron deficiency anaemia. Pediatr Cardiol 2010; 31: 1203-8

Sirichotiyakul S, Sa-nguansermsri T, Maneerat J, Dhananjayanonda P. Sensitivity and specificity of mean corpuscular volume testing for screening for α-thalassemia-1 and β-thalassemia traits. Journal of Obstetrics and Gynaecology Research 2005; 31(3):198-201.

Bose S, Maimoon S. Is Mentzer Index a reliable diagnostic screening tool for beta thalassemia trait?. Journal of Dental and Medical Sciences (IOSR-JDMS) 2018; 17(7): 07-11

Rathod DA, Kaur A, Patel V, Patel K, MD, Kabrawala R, Patel V, Patel M, Shah P. Usefulness of cell counter–based parameters and formulas in detection of β-thalassemia trait in areas of high prevalence. Am J Clin Pathol 2007;128:585-9

Galanello R. Screening and diagnosis for hemoglobin disorder. prevention of thalassaemias and other haemoglobin disorders: Volume 1: Principles [Internet]. 2nd edition

Sorathiya VP, Vachhani NA , Nandani SL , Vekariya DJ , Kashiyani HN , Colah RB. Experience with NESTROFT for screening for thalassemia trait/ minor: evaluation against CBC and HPLC in a high prevalence region in Saurashtra, Gujarat, India. International Journal of Research in Medical Sciences. Int J Res Med Sci.2020; 8(3):1108-13.

Kattamis C, Efremov G, Pootrakul S. Effectiveness of one tube osmotik fragility screening in detecting beta-thalassaemia trait. J Med Gene. 1981;18(4):266-70

Hana WP, Huanga L, Lia YY, Hana YY, Lia D, Ana BQ et al. Reference intervals for HbA2 and HbF and cut-off value of HbA2 for βthalassemia carrier screening in a Guizhou population of reproductive age. Clinical Biochemistry 2019; 65: 24-28.

Refbacks

  • There are currently no refbacks.