Assessment of Complement Regulatory Proteins CD55 and CD59 on Erythrocytes in Beta-Thalassemia Major Patients.

This study intended to measure the expression of complement regulatory proteins CD55 and CD59 on RBCs membrane in patients with β-thalassemia (β- thal) major in addition to investigate if splenectomy affects their expression pattern. This was a case-control study, participants were allocated in three groups. The study group 1 consisted of β-thal patients who underwent splenectomy.

p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Objective: To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum, small pinched nose and pursed mouth.

Methods: Amplification of exon 17 of the embryonic myosin heavy chain (MYH3) gene was done using one forward and two different reverse primers, and then the cleaned PCR product was sequenced.

Result: A de novo missense mutation (c.