Iranian national program for the prevention of thalassemia and prenatal diagnosis : mandatory premarital screening and legal medical abortion

Fallah, Mohammad‐Sadegh; Samavat, Ashraf; Zeinali, Sirous

doi:10.1002/pd.2373

Cited by 21 publications

(13 citation statements)

References 5 publications

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“…In populations with high consanguinity rates and common inherited blood disorders, community programs for premarital screening to detect carriers of hemoglobinopathies such as thalassemia and sickle cell anemia are in progress as for example in Jordan (Hamamy et al 2007a), Saudi Arabia (Memish and Saeedi 2011), Iran (Fallah et al 2009), Iraq (Al-Allawi and Al-Dousky 2010), Bahrain (Al-Arrayed 2005) and Turkey (Mendilcioglu et al 2011). Carrier detection and genetic counseling programs have been very successful in reducing the birth prevalence of inherited disorders in some populations, such as in Iran (Khorasani et al 2008;Samavat and Modell 2004).…”

Section: Preconception and Premarital Counseling For Consanguinitymentioning

confidence: 99%

Consanguineous marriages

2011

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Consanguinity is a deeply rooted social trend among one-fifth of the world population mostly residing in the Middle East, West Asia and North Africa, as well as among emigrants from these communities now residing in North America, Europe and Australia. The mounting public awareness on prevention of congenital and genetic disorders in offspring is driving an increasing number of couples contemplating marriage and reproduction in highly consanguineous communities to seek counseling on consanguinity. Primary health care providers are faced with consanguineous couples demanding answers to their questions on the anticipated health risks to their offspring. Preconception and premarital counseling on consanguinity should be part of the training of health care providers particularly in highly consanguineous populations.

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Section: Preconception and Premarital Counseling For Consanguinitymentioning

confidence: 99%

Consanguineous marriages

2011

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“…Since thalassemia is one of the most common health problems in Iran, premarital genetic counseling, screening for identification of β-thalassemia carriers and reducing affected childbirths have been startedsince 1997 in Iran (11). The precise and deep molecular analysis of the suspected cases helps decreasing the number of childbirth with thalassemia.…”

Section: Discussionmentioning

confidence: 99%

Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016

et al. 2017

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“…Prenatal diagnosis of β-thal has been used proficiently since the 1970s in many parts of the world (17) and it has been applied for about two decades in Iran. The legal, religious and β-Thalassemia Mutations in the Sistani Ethnic Group ethical considerations in the region permit abortions not later than 120 days following conception (18). Quick PND is very helpful in prevention of β-thal, which in turn depends on finding the β-thal mutation spectrum for each region and ethnic group.…”

Section: Introductionmentioning

confidence: 99%

Sistani Population: a Different Spectrum oF β-Thalassemia Mutations From other Ethnic Groups of Iran

et al. 2013

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This study aimed to characterize the molecular spectrum of β-thalassemia (β-thal) mutations and evaluate the services available for prenatal diagnosis (PND) among the Sistani population of Iran. Mutations were analyzed with amplification refractory mutation system (ARMS), gap-polymerase chain reaction (gap-PCR), multiplex ligation-dependent probe amplification (MLPA) analysis and direct sequencing. Fetal diagnosis was also confirmed by linkage analysis. Over a 9-year period (2002-2011), 405 at-risk Sistani couples were referred for mutation analysis and/or PND. Of the referred couples, 18.5% had one to three affected children with β-thal major (β-TM) and the remainder had no children or were not married. Most of the couples (73.3%) lived in urban areas and the rate of consanguineous marriage was 76.8%. Twenty-one mutations were identified, of which the most frequent ones were IVS-I-5 (G>C) with a frequency of 74.1%, followed by codon 15 G>A (5.0%), codon -88 (C>T) (3.8%), IVS-II-1 (G>A) (3.4%), codons 8/9 (+G) (2.9%) and IVS-I-1 (G>T) (2.7%), which accounted for about 91.9% of the total β-thal mutations for this region. Furthermore, fetal DNA was obtained from chorionic villus sampling (CVS) for 266 pregnant women and 68 (25.5%) fetuses were diagnosed as affected. In summary, β-thal mutations are very heterogeneous and significantly different from those found in other parts of Iran and are similar to those of Pakistani and Indian populations. These results could greatly facilitate timely and accurate PND.

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Iranian national program for the prevention of thalassemia and prenatal diagnosis : mandatory premarital screening and legal medical abortion

Cited by 21 publications

References 5 publications

Consanguineous marriages

Consanguineous marriages

Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016

Sistani Population: a Different Spectrum oF β-Thalassemia Mutations From other Ethnic Groups of Iran

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