About
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. More than 1,800 hemoglobin variants have been characterized(4,5) but only a few are common: Hb S, Hb C, Hb E and Hb D-Punjab.
Diagnosis
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 recognized 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).
Featured resources on Hemoglobin Disorders
See all resourcesFurther evaluation of the world health organization international reference reagent for Haemoglobin A2 measurement
This article assesses the performances of the different manufacturers and technologies (HPLC and CE) for Hb A2 measurement using both International Reference Reagent for HbA2 (WHO IRR 89/666) and analysis of three whole blood specimens over a range of HbA2, distributed to 56 laboratories located in 14 different countries.
Precision of CAPILLARYS 2 for the Detection of Hemoglobin Variants Based on Their Migration Positions
In this report, we evaluated the use of the capillary electrophoresis (CE) migration position in the CAPILLARYS 2 CE instrument.
Hemoglobinopathy Testing: What are the Key Points a Lab Should Consider?
Educational Webinar Dr. Cornelia L. Harteveld from Leiden University Medical Center
CAPILLARYS 3 DBS – Introductory video
The perfect match for screening hemoglobin disorders in newborns
Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies – MDPI – 2019
This special Issue related to newborn screening for Sickle Cell disease and other hemoglobinopathies tried to cover the most widely faced challenges in the field of newborn screening for SCD.
Hemoglobinopathy Investigation – The Case for Capillary Electrophoresis
Educational Webinar with Jason EYRE
Sebia USA Learning Series
Sebia specializes in providing testing solutions for a range of diseases, including Diabetes and Multiple Myeloma. Learn about the impact of these diseases and the medical solutions available.
HYDRASYS 2 SCAN FOCUSING: Overview
Learn more about the HYDRASYS 2 SCAN FOCUSING for a fast and user-friendly gel electrophoresis processing.
How External Quality Assessment supports quality improvement in laboratory hemoglobinopathy diagnosis
Educational Webinar with Dr. Barbara De la Salle
Upcoming events
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CAPILLARYS 3 OCTA
Evolution makes the difference.
CAPILLARYS 3 TERA MC
The power of up to 36 capillaries in one automated high volume workcell.
HYDRASYS 2 SCAN FOCUSING
Large menu with high quality results on gel electrophoresis.
CAPILLARYS 3 DBS
The high throughput solution for screening newborn hemoglobin disorders.
Hemoglobin disorders screening
The high-resolution method for hemoglobin disorders screening.
Newborn Hemoglobin disorders screening
The perfect match for screening hemoglobin disorders in newborns.
(1) https://www.who.int/bulletin/volumes/86/6/06-036673.pdf?ua=1
(2) https://www.sciencedirect.com/science/article/pii/S2214109X13701505
(4) http://globin.cse.psu.edu/hbvar/menu.html
(5) https://www.tandfonline.com/doi/full/10.1080/17474086.2019.1656525
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Carefully read the instructions in the reagent package inserts and instrument manuals.