Hemoglobin E

Hemoglobin E (HbE) is an abnormal form of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. This variant of hemoglobin is most commonly found in individuals of Southeast Asian descent, including those from Thailand, Cambodia, and Laos. Hemoglobin E is caused by a mutation in the beta globin gene, which is one of the two genes that encode the protein subunits of hemoglobin.

Structure and Function

Hemoglobin E is structurally similar to normal hemoglobin, but it has a single amino acid substitution in the beta globin chain. This substitution results in a change in the protein's structure, which can affect its function. Despite this, individuals with hemoglobin E typically do not experience any symptoms or health problems related to the mutation.

Genetics

Hemoglobin E is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to have the condition. Those who inherit only one copy of the mutated gene are carriers and typically do not experience any health problems.

Clinical Significance

While individuals with hemoglobin E typically do not experience any symptoms, those who inherit two different abnormal hemoglobin genes (one for hemoglobin E and one for another variant, such as hemoglobin S or beta thalassemia) can have a more severe condition known as Hemoglobin E/beta thalassemia. This condition can cause a range of symptoms, including anemia, enlarged spleen, and skeletal deformities.

Diagnosis and Treatment

Hemoglobin E can be diagnosed through a blood test that measures the types of hemoglobin present. Treatment is typically not necessary for individuals with hemoglobin E, unless they also have another hemoglobin disorder.

See Also

• Hemoglobinopathies
• Hemoglobin C
• Hemoglobin S
• Beta thalassemia