Hemoglobinopathies

Abstract:
Hemoglobinopathies are mostly hereditary conditions in which the hemoglobin synthesis is abnormal. The most important forms are:

Hemoglobinopathies occur often in combination in a patient due to the overlap of endemic areas The diagnosis bases on the hemoglobin electrophoresis, the high performance liquid chromatography (HPLC) and molecular methods.

 

Clinical picture:
The clinical picture of hemoglobinopathies ranges from mild, asymptomatic anemia to severe anemia that requires lifelong transfusion therapy. Certain homozygous forms are not compatible with life and often lead to hydrops fetalis.

 

Hematology:
Hemoglobinopathies result in different morphological features. These are discussed in the corresponding description of the disease.