Hemoglobinopathy
| Hemoglobinopathy | |
|---|---|
| Other names | Hemoglobinopathies |
| Red blood cells from a person with sickle cell disease, illustrating abnormal shape of some red blood cells | |
| Specialty | Hematology |
| Symptoms | Chronic anemia |
| Complications | Enlarged spleen, iron overload, death |
| Usual onset | During fetal development or very early infancy |
| Types | Relatively frequent: sickle cell disease, alpha thalassemia and beta thalassemia |
| Causes | Inherited disease |
| Diagnostic method | Blood smear, ferritin test, hemoglobin electrophoresis, DNA sequencing |
| Differential diagnosis | Iron deficiency anemia |
| Prevention | Genetic counselling of potential parents, termination of pregnancy |
| Treatment | Blood transfusion, iron chelation, hematopoietic stem cell transplant |
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.
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.