hemoglobinopathy

Also known as hemoglobinopathies, Hemoglobinopathies / Iron Metabolism

Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.

Key facts

Medical condition (new).name: Hemoglobinopathy
Medical condition (new).synonyms: Hemoglobinopathies
Medical condition (new).image: File:Sickle cells.jpg
Medical condition (new).caption: Red blood cells from a person with sickle cell disease, illustrating abnormal 'sickle' shaped red blood cells - key characteristic of the disease.
Medical condition (new).symptoms: Chronic anemia
Medical condition (new).complications: Enlarged spleen, iron overload, death
Medical condition (new).onset: During fetal development or very early infancy
Medical condition (new).types: Relatively frequent: sickle cell disease, alpha thalassemia and beta thalassemia
Medical condition (new).causes: Usually inherited
Medical condition (new).diagnosis: Blood smear, ferritin test, hemoglobin electrophoresis, DNA sequencing
Medical condition (new).differential

Article

14 sections

Contents

Hemoglobin functions
Hemoglobin structural biology
Classification of hemoglobinopathies
A) Qualitative
Structural abnormalities
Chemical abnormalities
B) Quantitative
Production abnormalities
Combination hemoglobinopathies
Hemoglobin variants
Normal hemoglobins
Relatively common abnormal hemoglobins
Evolutionary advantage
References

There are two main groups: abnormal structural hemoglobin variants caused by mutations in the hemoglobin genes, and the thalassemias, which are caused by an underproduction of otherwise normal hemoglobin molecules. The main structural hemoglobin variants are HbS, HbE and HbC. The main types of thalassemia are alpha-thalassemia and beta thalassemia.