Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia.

Objective/background: Mutations in transmembrane protease serine 6 (TMPRSS6) gene induce high hepcidin level, which causes iron-refractory iron deficiency anemia (IRIDA) by preventing duodenal iron absorption. This study aims to identify the common genetic variations of the TMPRSS6 gene that affect iron levels among Saudi female patients with iron deficiency anemia (IDA).

Methods: All study participants were Saudi females (12-49 years old): 32 patients with IDA, 32 patients with IRIDA, and 34 healthy individuals comprising the control group.

Role of non-invasive assessment in prediction of preclinical cardiac affection in multi-transfused thalassaemia major patients.

Background: The principal cause of mortality and morbidity in β-thalassemia major (β-TM) is the iron overload as these patients receive about 20 times the normal intake of iron, which leads to iron accumulation and damage in the liver, heart, and endocrine organs. Chronically transfused patients used to die from cardiac iron overload in their teens and twenties. Monitoring of iron status through cardiac magnetic resonance imaging (CMRI) has replaced the conventional methods of assessment, yet this modality is not readily available in centers where the disease distribution is maximal.

Plasma PTX3 levels in sickle cell disease patients, during vaso occlusion and acute chest syndrome (data from Saudi population).

Background: Sickle cell disease (SCD) is a chronic, incurable hereditary disease. The vaso-occlusive crisis (VOC) is the most frequently occurring acute complication in sickle cell patients and accounts for the majority of SCD-related hospital admissions. Another major complication is the potentially fatal acute chest syndrome (ACS).