PRENATAL DIAGNOSIS AND FREQUENCY DETERMINATION OF Α, B-THELASSEMIA, S, D AND C HEMOGLOBINOPATHIES GLOBIN MUTATIONS AMONG AHWAZIAN VOLUNTEERS

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ZANDIAN KH.M.; PEDRAM M.; KEYKHAEI B.

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Journal: Jundishapur Scientific Medical Journal Year:2006 | Volume:5 | Issue:3 (50) Page(s): 628-632

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Title

PRENATAL DIAGNOSIS AND FREQUENCY DETERMINATION OF Α, B-THELASSEMIA, S, D AND C HEMOGLOBINOPATHIES GLOBIN MUTATIONS AMONG AHWAZIAN VOLUNTEERS

Author(s)

ZANDIAN KH.M. | PEDRAM M. | KEYKHAEI B. | Issue Writer Certificate

Keywords

PRENATAL SCREENINGQ3

A- AND B-THALASSEMIAQ3

S C D HEMOGLOBINOPATHIES AHWAZ IRANQ3

Abstract

Objective: Khuzestan is a large province in southwest of Iran with a large variable collection of a b- thelassemia and others b-globulin gene mutation such as S, D and C hemoglobinopathies. The aim of this perspective study was to assess the Frequency of these gene mutations among volunteering mothers-to-be referred to our research centre during their prenatal period.Subjects and Methods: Prenatal diagnosis was carried out over a four-year period (2000-2004) on 93 volunteered mothers-to-be with history of thelassemia in their family at weeks 10-11 of gestation. The type of mutation was identified by private Medical Genetics Consultant Centres in Tehran. The collected data were reviewed and analyzed.Results: There were 11 (11.8%) cases of positive foetal abnormalities of various types of thelassemia. The results showed that b-thelassemia was the highest type of Frequency and accounting for 55% of all gene mutation. The prevalence of other mutations was: S 16, D 3, C 1 and a-globin gene was 9.7%. Undetermined cases were 18%. Three (27.2%) of the mothers accepted voluntary abortion of the fetuses.Conclusion: The findings from this study demonstrated that the frequency rate of positive thelassemia gene mutations among the volunteers for prenatal diagnosis was 11.8%, which is relatively low. In addition, the findings suggest that PRENATAL SCREENING is a useful method for identifying the inflected foetuses and can be used for control of spreading of these genes in our society. Due to high expenses and the long distance from the capital, it is recommended that similar facilities to be made available to the people are this area. Furthermore, the frequency of 18% of unknown genetic traits of thelassemia dictates further detailed studies that can elucidate the other types of genetic abnormities that exist in this area.

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APA: Copy

ZANDIAN, KH.M., PEDRAM, M., & KEYKHAEI, B.. (2006). PRENATAL DIAGNOSIS AND FREQUENCY DETERMINATION OF Α, B-THELASSEMIA, S, D AND C HEMOGLOBINOPATHIES GLOBIN MUTATIONS AMONG AHWAZIAN VOLUNTEERS. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, 5(3 (50)), 628-632. SID. https://sid.ir/paper/12550/en

Vancouver: Copy

ZANDIAN KH.M., PEDRAM M., KEYKHAEI B.. PRENATAL DIAGNOSIS AND FREQUENCY DETERMINATION OF Α, B-THELASSEMIA, S, D AND C HEMOGLOBINOPATHIES GLOBIN MUTATIONS AMONG AHWAZIAN VOLUNTEERS. JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL[Internet]. 2006;5(3 (50)):628-632. Available from: https://sid.ir/paper/12550/en

IEEE: Copy

KH.M. ZANDIAN, M. PEDRAM, and B. KEYKHAEI, “PRENATAL DIAGNOSIS AND FREQUENCY DETERMINATION OF Α, B-THELASSEMIA, S, D AND C HEMOGLOBINOPATHIES GLOBIN MUTATIONS AMONG AHWAZIAN VOLUNTEERS,” JUNDISHAPUR SCIENTIFIC MEDICAL JOURNAL, vol. 5, no. 3 (50), pp. 628–632, 2006, [Online]. Available: https://sid.ir/paper/12550/en

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