Prevalence of Minor β-thalassemia Based on RBC Indices among Final Suspected Individuals in Premarital Screening Program Referred to Genetic Laboratories
Abstract
Introduction:The current study evaluated the value of red blood cell (RBC) indices and the corresponding cut- off points for β-thalassemia control programs in Iran.
Materials and Methods:1,150 individuals (575 couples) with low RBC indices and normal hemoglobin A2 who had been referred to the Genetic Centre of Isfahan, were tested during pre-marital screening analyses, in the 2 year period, 2006-2008. β-thalassemia mutations were evaluated.
Results: β-thalassemia was identified in 67.8% of the cases with both mean corpuscular volume (MCV) less than 78fl and mean corpuscular hemoglobin (MCH) less than 26 pg. However, 4.1% of the individuals with 78≤ MCV≤ 80 tested positive for thalassemia. MCV showed a higher diagnostic reliability than MCH. However, the accompaniment of MCH<26 with MCV<78 increased the risk of thalassemia 35 times. A significant association was found between the prevalence of minor β-thalassemia and educational levels, race and familial relationships.
Conclusion: According to the results of this study, it seems that MCV=80fl can be used as a proper cut- off point for the screening of minor β-thalassemia. Although in the present study MCV was found to have a higher diagnostic reliability than MCH, MCH <26 along with MCV are very helpful indices for the counselor physician to estimate the risk of minor β-thalassemia more accurately.
Fallah MS, Samavat A, Zeinali S. Iranian National Program for the Prevention of Thalassemia and Prenatal Diagnosis: Mandatory Premarital Screening and Legal Medical Abortion. Prenat Diagn 2009; 29(13): 1285- 6.
Samavat A, Modell B. Iranian National Thalassaemia Screening Programme. Bmj 2004; 329 (7475): 1134- 7.
Al-Suliman A. Prevalence of beta-Thalassemia Trait in Premarital Screening in Al-Hassa, Saudi Arabia. Ann Saudi Med 2006; 26 (1): 14- 6.
Ma ES, Chan AY, Ha SY, et al. Thalassemia Screening Based on Red Cell Indices in the Chinese. Haematologica 2001; 86 (12): 1310- 1.
Leung TN, Lau TK, Chung T. Thalassaemia Screening in Pregnancy. Curr Opin Obstet Gynecol 2005; 17 (2): 129- 34.
Bencaiova G, Burkhardt T, Krafft A, et al. Screening for beta-Thalassaemia Trait in Anaemic Pregnant Women. Gynecol Obstet Invest 2006; 62 (1): 20- 7.
Mamtani M, Jawahirani A, Rughwani V, et al. Value of Mean Corpuscular Volume and Mean Corpuscular Haemoglobin in Screening for beta-Thalassaemia Trait. Acta Haematol 2006; 116 (3): 223- 5.
Law HY, Chee MK, Tan GP, et al. The Simultaneous Presence of alpha- and beta-Thalassaemia Alleles: a Pitfall of Thalassaemia Screening. Community Genet 2003; 6 (1): 14- 21.
Kotwal J, Saxena R, Choudhry VP, et al. Erythrocyte Indices for Discriminating Thalassaemic and non- Thalassaemic Microcytosis in Indians. Natl Med J India 1999; 12 (6): 266- 7.
Kiss TL, Ali MA, Levine M, et al. An Algorithm to Aid in the Investigation of Thalassemia Trait in Multicultural Populations. Arch Pathol Lab Med 2000; 124 (9): 1320- 3.
Pignati CB GR. Thalassemia and Related Disorders- Quantitative Disorders of Hemoglobin. In: Foerester J RMG, Paraskevas F, Glader B, et al GreerJ P, editor. Wintrobe's Clinical Hematology. 12 ed. Philadelphia: Lippincott Williams and Wilkins; 2009. p. 1083- 1131.
Karimi M, Rasekhi AR. Efficiency of Premarital Screening of beta-Thalassemia Trait Using MCH Rather than MCV in the Population of Fars Province, Iran. Haematologia (Budap) 2002; 32 (2): 129- 33.
Farid M, Farid S, Alamgir M, et al. Role of non- Government Organization in Improving Socio-economic and Physical Conditions of the Patients of Thalassemia and Hemophilia. J. Applied Sci. 2002; 2: 579- 583.
Abolghasemi H, Amid A, Zeinali S, et al. Thalassemia in Iran: Epidemiology, Prevention, and Management. J Pediatr Hematol Oncol 2007; 29 (4): 233- 8.
Habibzadeh F YM, Merat A, Haghshenas M. Thalassemia in Iran; an Overview. Arch Iran Med 1998; 1: 27- 33.
Pranpanus S, Sirichotiyakul S, Srisupundit K, et al. Sensitivity and Specificity of Mean Corpuscular Hemoglobin (MCH): for Screening alpha-Thalassemia-1 Trait and beta- Thalassemia Trait. J Med Assoc Thai 2009; 92 (6): 739- 43.
Lafferty JD, Crowther MA, Ali MA, et al. The Evaluation of Various Mathematical RBC Indices and their Efficacy in Discriminating between Thalassemic and non-Thalassemic Microcytosis. Am J Clin Pathol 1996; 106 (2): 201- 5.
Sirichotiyakul S, Maneerat J, Sa-nguansermsri T, et al. Sensitivity and Specificity of Mean Corpuscular Volume Testing for Screening for alpha-Thalassemia-1 and beta- Thalassemia Traits. J Obstet Gynaecol Res 2005; 31 (3): 198- 201.
Melo MR, Purini MC, Cancado RD, et al. [The Use of Erythrocyte (RBC) Indices in the Differential Diagnosis of Microcytic Anemias: Is it an Approach to be Adopted?]. Rev Assoc Med Bras 2002; 48 (3): 222- 4.
Sirdah M, Tarazi I, Al Najjar E, et al. 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 2008; 30 (4): 324- 330.
Files | ||
Issue | Vol 4, No 1 (2010) | |
Section | Articles | |
Keywords | ||
Minor β-Thalassemia Screening MCH MCV Thalassemia Preventing Program |
Rights and permissions | |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |