Prenatal diagnosis of beta-thalassemia in the West Bank and Gaza.

Objective: This study focuses on the genetic aspect of beta-thalassemia among 88 at risk couples from the West Bank and Gaza, and the attitude of these couples toward prenatal diagnosis and its outcome as a preventive method.

Methods: We tested 130 prenatal samples for beta-thalassemia during the period from January 1999 to July 2005. We performed prenatal diagnosis in these cases using the amplification refractory mutation system, as well as beta-globin gene sequencing as a conformational method.

Genetic screening of familial Mediterranean fever mutations in the Palestinian population.

Objective: To investigate the spectrum of mutations and genotypes in the pyrin gene in familial Mediterranean fever (FMF) patients.

Methods: Blood samples of 511 suspected FMF patients, received from the Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount Olives, Jerusalem during the period from June 1999 to August 2004, were investigated by genotyping 24 different MEFV mutations.

Results: Our work revealed the presence of 14 different mutations from the identified 24 mutations in the gene which are assembled in 6 homozygous, 9 heterozygous and 16 compound heterozygous genotypes.