Scientists at Penn State have shed light on some of the processes that regulate genes -- such as the processes that ensure that proteins are produced at the correct time, place, and amount in an organism -- and they also have shed light on the evolution of the DNA regions that regulate genes.

Researchers from Weill Cornell Medical College may have discovered the precise role of a gene in one of the world's most common blood disorders, beta-thalassemia, commonly known as Cooley's anemia. Along with sickle-cell anemia, Cooley's anemia is the most commonly inherited disease in the world, affecting many people of Mediterranean descent, and 20 out of every 100,000 African-Americans.

Virginia Commonwealth University researchers studying hemoglobin genes, mutations of which play a role in genetic blood disorders like sickle cell anemia and beta-thalassemia, have identified two proteins that are responsible for regulating overlapping groups of genes during the development of red blood cells.

6% of the patient population in Melbourne carries a genetic abnormality implicated in thalassemia. As well as causing blood disorders and severe mental retardation, boys with ATRX mutations have genital abnormalities.

Sickle cell anemia is the most common inherited blood disorder in the United States. The transport of potassium (K) and chloride (Cl) ions in and out of red blood cells is a major determinant of the cells' volume and density. Overactivation of K-Cl cotransport out of red blood cells leads to red blood cell dehydration and distortion (sickling).