Hemoglobin variants and thalassemias are two genetically distinct hemoglobin abnormalities. Thalassemias are characterized by a reduced synthesis of the normal globin chain due to gene deletions or mutations. The most common thalassemias are alpha- and beta-thalassemias. The hemoglobin variants are caused by amino acid substitutions in either globin chain. Globally, more than 1800 hemoglobin variants have been characterized(4,5) but only a few are widely common: Hb S, Hb C, Hb E and Hb D-Punjab.


Hemoglobinopathies can present several clinical symptoms, from benign (mild microcytosis) to the most severe (sickle cell disease, Hb Bart’s hydrops fetalis, …) with multiple organ damage, requiring lifelong transfusions. Diagnosis and follow-up of hemoglobinopathies depend on the presence of abnormal hemoglobin fractions on electrophoresis profiles and the quantification of Hb A2.

Sebia's expertise

For more than 20 years, Sebia has developed a strong expertise in the field of hemoglobin disorders screening and is a recognised partner of choice for all laboratories and scientists involved in hemoglobinopathies.

In addition to hematological RBC parameters, the information on the type and quantification of hemoglobin given by the CE technique provides key information in the screening of hemoglobinopathies such as Thalassemia or Sickle Cell Disease(4,5).