The need to perform α-thalassemia genetic testing in Italian patients with β-thalassemia trait: A case report.

Here, we describe a case report of a Sardinian woman diagnosed as pure beta-thalassemia carrier for her anemia who underwent to alpha-thalassemia genetic testing that revealed she was heterozygous for both thalssemias. This allowed to reach a conclusive diagnosis useful for family counseling and for assess the reproductive risk.

Retinal defects in mice lacking the autism-associated gene Engrailed-2.

Defective cortical processing of visual stimuli and altered retinal function have been described in autism spectrum disorder (ASD) patients. In keeping with these findings, anatomical and functional defects have been found in the visual cortex and retina of mice bearing mutations for ASD-associated genes. Here we sought to investigate the anatomy and function of the adult retina of Engrailed 2 knockout (En2) mice, a model for ASD.

An innovative test for non-invasive Kell genotyping on circulating fetal DNA by means of the allelic discrimination of K1 and K2 antigens.

Objective: The aim of this study was to present a new method for fetal Kell genotyping by means of the allelic discrimination of K1 and K2 in real-time polymerase chain reaction (PCR).

Methods: Real-time quantitative polymerase chain reaction incorporating an allele-specific primer was developed for detecting the K allele of KEL.

Results: By means of this method, the K1/K2 genotype was able to be determined in all blood samples analyzed.