thalassemia major

thalassemia major The most serious form of beta thalassemia, in which there is a mutation in both of the beta globin chains of hemoglobin. This leads to underproduction or absence of beta chains, underproduction of hemoglobin, and profound anemia. Children with thalassemia major seem entirely normal at birth because at birth they still have predominantly…

thalassemia, alpha

thalassemia, alpha A form of thalassemia that involves the hemoglobin alpha chain. If a fetus inherits two genes for alpha thalassemia, one from each parent, the disorder is lethal before birth: No alpha chains can be made, and without alpha chains, there can be no fetal hemoglobin. If the fetus inherits only one alpha thalassemia…

thalassemia

thalassemia A group of genetic disorders that involve underproduction of hemoglobin, the indispensable molecule in red blood cells that transports oxygen and carbon dioxide. All forms of hemoglobin are made up of two molecules: heme and globin. The globin part of hemoglobin is made up of four polypeptide chains. In normal adult hemoglobin (Hb A),…

thalamus

thalamus A large ovoid mass within the midbrain (the interbrain, connected to the cerebral hemisphere) that forms part of the walls of the third ventricle in the brain. The thalamus contains a number of distinct groups of cells, or nuclei, that function as relay centers for sensory and other impulses between the body and the…

T-4 count

T-4 count A test that counts the number of T-4 cells in the blood, for example, to assess the immune status of a patient with HIV. Of the various ways to read a T-4 count test, the best indicator of health may be the absolute T-4 count, the actual number of T-cells per unit volume…

T-4 cell

T-4 cell A T cell that expresses the CD4 transmembrane glycoprotein (CD4+ T cell). T-4 cells are active in the body’s immune response, helping to turn on this system when it is challenged by an infection or by foreign matter in the body. HIV attacks T-4 cells, knocking out the body’s ability to defend itself…

Overriding aorta

Overriding aorta A case in which the aorta overrides or straddles the wall (the septum) between the ventricles, permitting oxygen-poor blood to flow through the VSD into the aorta. Open-heart surgery is done on patients with tetralogy of Fallot in infancy or early childhood. Untreated tetralogy of Fallot is usually fatal before age 20. With…