Alpha Thalassemia and Its Pathophysiology

These flashcards cover key vocabulary related to alpha thalassemia and its underlying pathophysiology, helping students to understand and memorize critical concepts for their exam.

Alpha Thalassemia

A genetic condition characterized by reduced alpha globin chain synthesis leading to anemia.

Gene Deletion

A mutation in which one or more genes are missing, common in the pathology of alpha thalassemia.

Hemoglobin H Disease

A form of alpha thalassemia resulting from three gene deletions, causing chronic hemolytic anemia.

Hydrops Fetalis

A severe condition in which the fetus has an accumulation of fluid due to all four alpha globin genes being deleted, incompatible with life.

Globin Chain Synthesis

The process of producing globin proteins that combine with heme to form hemoglobin, reducing in alpha thalassemia.

Electrophoresis

A laboratory technique used to separate different types of hemoglobin based on their charge and size, important for diagnosing thalassemia.

Red Cell Distribution Width (RDW)

A measure of the variation in red blood cell size; often normal in alpha thalassemia minor.

Microcytosis

A condition where red blood cells are smaller than normal, commonly observed in alpha thalassemia.

Anemia of Chronic Disease

A type of anemia that can be differentiated from thalassemia based on laboratory parameters such as red cell count and hemoglobin levels.

Hemoglobin Bart's

A form of hemoglobin associated with excess gamma globin chains, prominent in infants with certain types of alpha thalassemia.

Molecular Analysis

A laboratory test needed to confirm alpha thalassemia, especially when standard hemoglobin tests appear normal.

Hematologic Morphology

The study of blood cell structure to identify abnormalities; used to diagnose different types of thalassemia.