Hemoglobin Disorders

These flashcards cover key terms and definitions related to various hemoglobin disorders and their impacts.

Hemoglobinopathy

A genetic defect affecting the structure or production of hemoglobin.

Sickle Cell Disease

A hemoglobinopathy caused by a substitution of glutamic acid with valine in the ẞ-globin chain.

Vaso-occlusive crisis

A painful episode that occurs due to the obstruction of blood flow by sickled red blood cells.

Hb electrophoresis

A laboratory test used to identify different types of hemoglobin in the blood.

Hemoglobin C Disease

A hemoglobinopathy caused by a substitution of glutamic acid with lysine in the ẞ-globin chain.

Splenomegaly

Enlargement of the spleen, often seen in Hemoglobin SC Disease.

Alpha Thalassemia

A type of thalassemia caused by deletions of the alpha-globin genes.

Hydrops Fetalis

A severe condition which can occur in alpha thalassemia due to 4 gene deletions, typically incompatible with life.

Beta Thalassemia

A condition resulting from little to no production of ẞ-globin, leading to an excess of unstable alpha-globin chains.

Microcytic anemia

A type of anemia characterized by smaller than normal red blood cells, often seen in both alpha and beta thalassemia.