Prenatal Diagnosis of Hemoglobinopathies: A Case Study on Tunisia
Faida Ouali,Hajer Siala,Amina Bibi,Sondess Hadj Fradj,B. Dakhlaoui,Rim Othmani,Fekria Ouenniche,Faouzia Zouari,Faouzi Bouguerra,Hela Chelly,Taieb Messaoud +10 more
TL;DR: Although PND was successful in the lab, it was insufficient to cover the entire Tunisian territory and the researchers recommend to the health authorities to establish widespread PND services in places that are worst affected with these cases to prevent hemoglobinopathies.
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Abstract: Hemoglobinopathies are the most common genetic disease in Tunisia with a total carrier prevalence of 4.48%, reaching 12.5% at certain affected regions. The β-thalassemia trait frequency is 2.21% and the sickle cell trait is 1.89%. A prenatal diagnosis (PND) unit has been progressively installed since 1986 at the biochemistry and molecular biology department of children’s hospital of Tunis. The present study tries to explore the prenatal diagnosis of the Hemoglobinopathies in Tunisia for the period of 1994-2012 and tries to share its experiences and the progress achieved in overcoming this challenge.
340 out of 461 fetuses examined for this study were at risk and couples that have agreed for pre-diagnosis have benefited a lot in averting the major health risks like beta-thalassemia (41%), sickle cell anemia (40.3%), S/beta-thal (14.7%) and the remaining fetuses were at risk for a compound heterozygote hemoglobinopathies (S/O, O/beta-thal, S/C). 25.8% of the couple covered in this study have voluntarily asked for PND several times, as they were worried about giving birth to a child with Hemoglobinopathy. Fetal DNA was collected from chorionic villis biopsy of 53 cases, amniotic fluid samples are considered in 397 cases and CVS was followed in 7 cases for lack of results. Out of 461 tested foetuses, 26.2% of them were affected, 50.5% were carriers of the disease and 19.3% were completely healthy. PND fail to detect the problem in 3.9% of the cases. Except 13% of the affected fetuses, the entire number of cases detected with defected fetuses had been aborted. Although abortion is legal in Tunisia, 13% of pregnant women with affected fetus have refuted to abortion due to religious reasons. The total number of fetus aborted remained 1.53%. Although PND was successful in our lab, it was insufficient to cover the entire Tunisian territory. The researchers hence recommend to the health authorities to establish widespread PND services in places that are worst affected with these cases in Tunisia to prevent hemoglobinopathies
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Citations
Pre-natal diagnosis of thalassaemia in Sri Lanka: A ten year review.
Kalinga Khemal Nanayakkara,Undugodage Ganganath Rodrigo,Kuda Liyanage Nandika Perera,C. D. Nanayakkara +3 more
TL;DR: A review of 82 amniocenteses performed from 2006 to 2016 in Sri Lanka points to a 21% probability of thalassaemia major in the next child, giving the parents a guarded optimism to conceive another child without thalASSaemia disease.
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Prenatal Diagnosis of Hemoglobinopathies: A Case Study on Tunisia
Faida Ouali,Hajer Siala,Amina Bibi,Sondess Hadj Fradj,B. Dakhlaoui,Rim Othmani,Fekria Ouenniche,Faouzia Zouari,Faouzi Bouguerra,Hela Chelly,Taieb Messaoud +10 more
TL;DR: Although PND was successful in the lab, it was insufficient to cover the entire Tunisian territory and the researchers recommend to the health authorities to establish widespread PND services in places that are worst affected with these cases to prevent hemoglobinopathies.
Prenatal Genetic Counseling for Hemoglobinopathy Carriers: A Comparison of Primary Providers of Prenatal Care and Professional Genetic Counselors
TL;DR: In this article, the authors developed a pilot training program on the basis of their experience in offering such services and enlisted 68% of regional prenatal care providers to participate, and found that the proportion of patients detected to have a hemoglobinopathy who received counseling was similar in the primary and tertiary provider groups: 59% versus 50%, respectively, and 69% versus 66, respectively, for beta-thalassemia trait.
1
Antenatal Diagnosis of Sickle-Cell Anaemia by D. N. A. Analysis of Amniotic-Fluid Cells
Yuet Wai Kan,Andrée M. Dozy +1 more
TL;DR: In this paper, the polymorphism of a restriction endonuclease site has been used for antenatal diagnosis of sickle-cell disease, which confirmed the diagnosis reached after investigation of a 100% sample of fetal blood.
References
Contribution to the Description of the β‐Thalassemia Spectrum in Tunisia and the Origin of Mutation Diversity
Imen Chouk,Béchir Ben Daoud,Fethi Mellouli,Mohamed Bejaoui,Nathalie Gérard,Koussay Dellagi,Salem Abbes +6 more
TL;DR: The codon 39 and IVS‐I‐110 mutations were the two predominant alleles occurring at frequencies of 43.8% and 10.8%, respectively, presumably the earliest mutations introduced into this country.
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Red cell indices: differentiation between β-thalassemia trait and iron deficiency anemia and application to sickle-cell disease and sickle-cell thalassemia.
Chaima Abdelhafidh Sahli,Amina Bibi,Faida Ouali,Sondess Hadj Fredj,B. Dakhlaoui,R. Othmani,Naouel Laouini,Latifa Jouini,Fekria Ouenniche,Hajer Siala,Imed Touhami,Mariem Becher,Fattoum S,Nour El Houda Toumi,Taieb Messaoud +14 more
TL;DR: Srivastava Index, mean corpuscular hemoglobin, red blood cell, Mentzer Index (MI) and mean corpuscles hemoglobin concentration show the highest reliability in discriminating β-TT from IDA with new cut-offs slightly different from those described in literature.
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Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey.
TL;DR: In this article, the incidence of the IVS-I-110 (G > A) mutation accounted for about 50.0% of the parents with beta-thal trait.
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•Journal Article
Prenatal diagnosis of sickle cell anemia
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Carrier Screening and Prenatal Diagnosis of Hemoglobinopathies. A Study of Indigenous and Immigrant Couples in Northern Greece, Over the Last 5 Years
Stamatia Theodoridou,Michael Alemayehou,Nikolaos Prappas,Olga Karakasidou,Vasiliki Aletra,Eleni Plata,Panagiotis Tsaftaridis,Photini Karababa,Marina Boussiou,Klio Sinopoulou,Anna Hatzi,Ersi Voskaridou,Afroditi Loutradi,Anna Manitsa +13 more
TL;DR: The National Thalassaemia Prevention Programme has effectively decreased the incidence of thalassemia major and sickle cell syndromes in Greece.