A5044420004- Iron Metabolism and Disorders
- Blood groups and transfusion
- Hemoglobinopathies and Related Disorders
- Diabetes and associated disorders
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Congenital Heart Disease Studies
- Erythrocyte Function and Pathophysiology
- Diabetes Management and Research
- Congenital heart defects research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Neonatal Health and Biochemistry
Hospital Fatuma Bourguiba Monastir
2015-2016
Centre Hospitalier Universitaire Henri-Mondor
2014
Laboratoire de Biochimie
2011-2014
University of Monastir
2012-2013
BCL11A was the focus of recent studies on its inhibiting effect when bound onto β-globin cluster in mechanism hemoglobin switching and HbF downregulation. We examined a cohort 10 patients displaying different levels short deletions within γβ-δ intergenic region to find possible correlation with binding site located 5' δ-globin gene. Precise characterization achieved using custom DNA-array chip breakpoint sequencing. The α-globin major SNP associated expression were genotyped. Our results...
We have reported the first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl. She was child nonconsanguineous couple. The disease included neonatal onset chronic hemolytic anemia, recurrent low-respiratory infections then progressive neurological involvement. diagnosis made after her death from TPI values parents who exhibited intermediate enzyme deficiency. Molecular study genes showed that father and mother are heterozygous for Glu105Asp mutation....
The preparation of a prenatal diagnosis in family North-African origin which child received bone marrow transplant for β-thalassemia major (β-TM), prompted us to make the molecular parents and siblings. Molecular phenotype assays were carried on blood samples from proband's sister. father, 45-year-old man, was found be heterozygous rare mutation exon 2 [codon 46 (+A), HBB:c.138_139insA] creating frameshift, while mother sister carriers common codon 39 (C>T) stop (HBB:c.118C>T). Because...