National Approach to Premarital Diagnosis of Trait Thalassemia and Silent Carriers


Background: Major β-thalassemia occurs when impaired genes received by a neonate from the parents. In most of the parents, there are no apparent clinical manifestation and they just show some impairments in hematological indices. This study was designed to determine prevalence of minor and silent carries parents that have children suffering from major β-thalassemia, compare it with national protocol about prevention of thalassemia. Methods: A blood sample was taken from parents of all major thalassemic patients covered by TaleghaniHospitalin Gorgan (n = 195), CBC and Hemoglobin electrophoresis were done. Data were analyzed using SPSS software. Results: Amongst 196 parents one case have normal level of MCV, MCH, RBC, HbA, HbF and mentzer = 22.05 (0.51%) that diagnosed as alpha triplication/N by real time PCR, RFLP informative. The means of hematological indices were based on the national protocol. Conclusion: Present results showed that there are a few cases of thalassemia disorders with normal MCV, MCH, RBC, Mentzer index and Hb electrophoresis which could be missed in routine and pre-marital screening tests, resulted in a thalassemia child that it is possible in every screening test. Generally, indices were according to range of the national guideline.

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N. Mirbehbahani, A. Rashidbaghan, M. Mazji and N. Behnampour, "National Approach to Premarital Diagnosis of Trait Thalassemia and Silent Carriers," International Journal of Clinical Medicine, Vol. 4 No. 2, 2013, pp. 91-95. doi: 10.4236/ijcm.2013.42017.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] R. Sachdev, A. R. Dam and G. Tyagi, “Detection of Hb Variants and Hemoglobinopathies in Indian Population Using HPLC: Report of 2600 Cases,” Indian Journal of Pathology and Microbiology, Vol. 53, No. 1, 2010, pp. 57 62. doi:10.4103/0377 4929.59185
[2] M. B. H. Soteh, H. A. Niaki, M. Kowsarian, A. Alias gharian and A. Banihashemi, “Frequency of Beta Globin Gene Mutations in Beta Thalassemia Patients from East of Mazandaran,” Journal of Mazandaran University of Medical Sciences, Vol. 67, No. 18, 2008, pp. 17 25.
[3] A. Ahmadi A. R. M. Khalilabadi, M. Noroozi, N. Kohan and M. Ramzi, “Evaluation of Discrimination Indices Va lidity for Screening of β Thalassemia Trait,” Journal of Qom University of Medical Sciences, Vol. 3, No. 3, 2009, pp. 31 36.
[4] S. H. Oskie and D. G. Nathan, “The Thalassemia,” In: D. G. Nathan, S. H. Oskie, D. Ginsburg and T. Look, Eds., Hematology of Infancy and Childhood, Sunders, Philadel phia, 2009, p.1051.
[5] H. Ehteram and B. Shafaghi, “Laboratory Findings in Pa rents with Thalassemic Patients Referred to Imam Hos sein Hospital 1997,” Feyz Quarterly Journal of Kashan Medical University, Vol. 13, 2000, pp. 81 88.
[6] J. N. Luknes, “The Thalassemia and Related Disorders,” In: G. R. Lee, J. Foerester, J. N. Luknes, J. P. P. Greer and G. Rodgers, Eds., Wintrobes Clinical Hematology, Sunders, Philadelphia, 1999, pp. 1421 1430.
[7] E. Schwartz, “The Silent Carrier of Beta Thalassemia,” The New England Journal of Medicine, Vol. 281, No. 24, 1969, pp. 1327 1333. doi:10.1056/NEJM196912112812403
[8] M. Aksoy, G. Dincol and S. Erdem, “Different Types of Beta Thalassemia Intermedia,” Acta Haematologica, Vol. 59, No. 3, 1978, pp. 178 189. doi:10.1159/000207760
[9] C. Kattamis, A. Metaxotou Mavromati, W. G. Wood, J. R. Nash and D. J. Weatherall, “The Heterogeneity of Normal Hb A2 b Thalassaemia,” British Journal of Haematology, Vol. 42, No. 1, 1979, pp. 109 123.
[10] G. Aicardi, A. Naselli, G. V. Sciarratta and G. Sansone, “The Silent Carrier of Beta Thalassemia: Interaction with the Typical Beta Thalassemia Trait,” Blut, Vol. 38, No. 6, 1979, pp. 473 478. doi:10.1007/BF01013508
[11] M. Aksoy, G. Bermek, G. Almis and A. Kutlar, “B Tha lassemia Intermedia Homozygous for Normal Hemoglo bin A2 b Thalassemia. Study in Four Families,” Acta Ha ematologica, Vol. 67, No. 1, 1982, pp. 57 61. doi:10.1159/000207025
[12] G. V. Sciarratta, M. I Parodi, S. F. A. Vallerino and G. Sansone, “The Silent Carrier of β Thalassemia,” Annals of the New York Academy of Sciences, Vol. 445, 1984, pp. 111 118. doi:10.1111/j.1749 6632.1985.tb17180.x
[13] I. Bianco, M. P. Cappabianca, E. Foglietta, M. Lerone, G. Deidda, L. Morlupi, et al., “Silent Thalassemias: Geno types and Phenotypes,” Haematologica, Vol. 82, No. 3, 1997, pp. 269 280.
[14] S. H. Oskie and D. G. Nathan, “The Thalassemia,” In: D. G. Nathan, S. H. Oskie, D. Ginsburg and T. Look, Eds., Hematology of Infancy and Childhood, Sunders, Phila delphia, 2003, pp. 826 883.
[15] J. B. Edward, “Hemoglobin Disorders,” In: D. L. Kasper, A. S. Fauci, D. L. Longo, E. Braunwald, S. L. Hauser, J. L. Jameson and J. Loscalzo, Eds., Harrison’s Haematology and Oncology, Nasle Farda Publication, Tehran, 2005, pp. 105 114.
[16] A. Samavat and B. Modell, “Iranian National Thalassae mia Screening Programme,” British Medical Journal, Vol. 329, No. 7475, 2004, pp. 1134 1137. doi:10.1136/bmj.329.7475.1134
[17] A. Cao and R. Galanello, “Beta Thalassemia,” Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed
[18] M. Kosaryan, A. Okhvatian and F. Babamahmoodi, “How Much We Have Been Successful in Nationwide Preventive Program for Beta Thalassemia in Mazandaran University of Medical Sciences in 1992 2002,” Journal of Mazandaran University of Medical Sciences, Vol. 4, No. 13, 2004, pp. 47 54.
[19] M. Karimi, S. Johari and N. Cohan, “Attitude toward Prenatal Diagnosis for β Thalassemia Major and Medical Abortion in Southern Iran,” Hemoglobin, Vol. 34, No. 1, 2010, pp. 49 54. doi:10.3109/03630260903547690
[20] M. Atapour, A. Zohoor, A. Zolali and A. Arjmand, “He moglobin A2 Percentage in Definite Carriers of Beta Tha lassemia Major Patients Referred to Especial Disease Center in Kerman,” Journal of Kerman University of Me dical Sciences, Vol. 10, No. 2, 2003, pp. 99 104.
[21] G. H. Bahrami, H. Rahi and H. Dehghan, “Hemoglobin A2 and F Levels and Hematologic Parameters in Patients of Transfusion Dependent Thalassemia Major Patients,” Journal of Kermanshah University of Medical Sciences, Vol. 5, No. 2, 2001, pp. 6 12.
[22] C. Kattamis, A. Metaxotou Mavomati, W. G. Wood and J. R. Nash, “The Heterogeneity of Normal HbA2 Beta Thalassemia in Greec,” British Journal of Hematology, Vol. 42, No. 1, 1997, pp. 109 123. doi:10.1111/j.1365 2141.1979.tb03703.x
[23] G. Aicardi, A. Naselli and F. Sciarratta, “Silent Carrier of β Thalassemia: Interaction with Typical Beta Thalassemia Trait,” Blut, Vol. 38, No. 6, 1979, pp. 473 478. doi:10.1007/BF01013508
[24] G. L. Semenza, K. Delgross, P. Malladi and Z. Schwart, “The Silent Carrier Allele: Beta Thalassemia a without Mu tation in the Beta Globin Gene or Its Immediate Flank ing Regions,” Cell, Vol. 39, No. 1, 1984, pp. 123 128. doi:10.1016/0092 8674(84)90197 1
[25] A. Nad Korin, A. M. Pawar, V. C. Mudera, D. M. Mohanty and R. Colah, “Clinical Heterogeneity of Silent Gene β Thalassemia among India,” Annals of Hematol ogy, Vol. 70, No. 1, 1995, pp. 61

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