Journal of Blood Disorders & Transfusion

Rim Othmani

Publications

• Research Article
  Prenatal Diagnosis of Hemoglobinopathies: A Case Study on Tunisia
  Author(s): Faida Ouali, Hajer Siala, Amina Bibi, Sondess Hadj Fradj, Boutheina Dakhlaoui, Rim Othmani, Fekria Ouenniche, Faouzia Zouari, Faouzi Bouguerra, Héla Chelly and Taieb MessaoudFaida Ouali, Hajer Siala, Amina Bibi, Sondess Hadj Fradj, Boutheina Dakhlaoui, Rim Othmani, Fekria Ouenniche, Faouzia Zouari, Faouzi Bouguerra, Héla Chelly and Taieb Messaoud
  
  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 .. View More»
  DOI: 10.4172/2155-9864.1000285

  Abstract PDF