Evaluation of the validity of the pre-marriage mean corpuscular volume value as a predictive test for b-thalassemia carrier status

J Med Biochem. 2023 Mar 15;42(2):195-205. doi: 10.5937/jomb0-37682.

Abstract

Background: The national mandatory premarital screening test is based on mean corpuscular volume (MCV) > 80 fL 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 ≤ 74.45 fL is more suitable cutoff 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.

Conclusions: MCV<80 is a useful but not a perfect cutoff point for the screening of β-thalassemia carriers from noncarriers. 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.

Uvod: Nacionalni obavezni predbračni skrining test je zasnovan na vrednosti srednjeg korpuskularnog volumena (MCV) > 80 fL za otkrivanje b-talasemije kako bi se obezbedilo prihvatanje braka. Cilj ove studije je da se proceni efikasnost MCV kao skrining testa za osobinu b-talasemije u sadašnjoj populaciji.

Metode: Ova studija je sprovedena na 418 uzoraka krvi uzetih od odraslih osoba. Dijagnoza nosioca b-talasemije je data onima koji imaju HbA2 vrednosti jednake ili veće od 3,5%. Procenjena je dijagnostička pouzdanost različitih indeksa i formula eritrocita u diskriminatornim slučajevima osobine b-talasemije. Konačno, novi indeks pod nazivom "Momani" je određen na osnovu broja MCV, RDV i RBC.

Rezultati: Osobina b-talasemije identifikovana je u 10% slučajeva. Izmerena vrednost MCV bila je značajno niža u grupi nosilaca b-talasemije u poređenju sa grupom koja nije nosila (p = <0,001). MCV vrednost i broj eritrocita pokazali su veću dijagnostičku pouzdanost od drugih indeksa eritrocita. Otkrili smo da je MCV ≤ 74,45 fL pogodnija granična vrednost MCV sa 86,2% specifičnosti, 71,4% osetljivosti, 36,6% pozitivne prediktivne vrednosti i 96,4% negativne prediktivne vrednosti. Konačno, pokazalo se da je naš indeks "Momani" koristan u predviđanju nosioca i da je uporedio performanse Sirdah, Mentzer i Ehsani indeksa.

Zaključak: MCV<80 je korisna, ali ne i savršena granična tačka za skrining nosilaca b-talasemije od onih koji nisu nosioci. Dijagnostička tačnost MCV može se poboljšati izborom nove granične vrednosti. Štaviše, "Momani" indeks pokazuje dobru sposobnost diskriminacije u dijagnostici nosioca b-talasemije u našoj populaciji.

Keywords: HPLC; HbA2; MCV; RBC count; RDW; b-thalassemia minor; premarital screening test.