Hemoglobin and Hemoglobinopathies

Flashcards covering key vocabulary and definitions related to hemoglobin, its variations, associated genetic disorders, and physiological functions.

Hemoglobin (Hb)

A protein in red blood cells that carries oxygen throughout the body.

Tetramer

A complex structure consisting of four polypeptide chains.

Hb A

Normal adult hemoglobin that forms about 97-98% of adult Hb, composed of 2 alpha and 2 beta chains (α2β2).

Hb A1c

A glycated form of hemoglobin that provides an average blood glucose level over the last 8-12 weeks.

Hb F (Fetal Hemoglobin)

Composed of 2 alpha and 2 gamma chains (α2γ2), has a higher affinity for oxygen than adult hemoglobin.

Sickle Cell Anemia

A genetic disease caused by a mutation in the beta chain of hemoglobin, leading to sickle-shaped red blood cells.

Hemoglobin S (HbS)

Variant of hemoglobin associated with sickle cell disease, known for its lower solubility in deoxygenated form.

Thalassemias

Group of genetic disorders characterized by reduced production of hemoglobin chains, leading to anemia.

Methemoglobin

Form of hemoglobin where iron is in the ferric state, rendering it incapable of carrying oxygen.

Carboxyhemoglobin

Hemoglobin that is bonded with carbon monoxide, which is toxic.

Oxyhemoglobin

Hemoglobin that is bound to oxygen, present in arterial blood.

Glutamic Acid

A type of amino acid whose replacement with valine causes sickle cell disease.

Chromosome 16

Chromosome that contains the genes for alpha globin chains.

Chromosome 11

Chromosome that contains the genes for beta globin chains.

Hemoglobin C

A genetic variant of hemoglobin caused by mutation in the beta chain leading to mild hemolytic anemia.

β-thalassemia

A genetic condition caused by mutations in the beta globin genes, resulting in reduced or absent production of beta chains.

α-thalassemia

Genetic condition resulting from mutations in alpha globin genes, leading to an imbalance in hemoglobin chain production.