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Hemoglobin Disorders
The most common hereditary disorders.
Hemoglobinopathies are the most widespread inherited disorders worldwide.
Approximately 7% of the global population carries a hemoglobinopathy variant,
and about 2.7 ‰ of newborns are affected by these conditions.
Historically, these disorders have been highly prevalent in populations from Southern Europe, Africa, the Middle East, and Asia. However, due to ongoing global migration, hemoglobinopathies are now encountered across many regions of the world.
What are hemoglobinopathies?
Hemoglobin variants and thalassemias represent two genetic categories of hemoglobin abnormalities.
Thalassemias result from reduced synthesis of normal globin chains, typically caused by gene deletions or mutations, with α‑ and β‑thalassemias being the most common forms.
Hemoglobin variants, on the other hand, arise from amino acid substitutions or deletions in one of the globin chains, leading to a more or less significant alteration in the structure or overall ionic charge of the hemoglobin protein. More than 1,500 hemoglobin variants have been identified worldwide, although only a few occur with high frequency, notably Hb S, Hb C, Hb E, and Hb D‑Punjab (also called Hb D-Los Angeles). Hemoglobin S alone, in the absence of normal hemoglobin (Hb A), or in combination with certain variants such as Hb C, leads to Sickle Cell Disease.
Screening for hemoglobinopathies is essential because it enables early detection of severe complications, reduces morbidity and mortality, identifies asymptomatic carriers, supports informed reproductive choices, and strengthens public health planning to reduce disease burden.
≈ 8
million people live with Sickle Cell Disease globally
> 1.3
million people live with severe thalassemia worldwide
2,400+
variants of hemoglobin and forms of thalassemias have been described so far
Knowledge & Science
We aim to educate and share scientific and medical educational information with our customers all around the world.
Understand in 2 minutes how capillary electrophoresis works, and why it gives such high and clear resolution in lab testing.
Instruments for diagnosing Hemoglobin Disorders
The compact and affordable automation of Capillary Electrophoresis.
Evolution makes the difference.
A concentrate of Sebia’s expertise in a high throughput instrument.
Capillary Electrophoresis solution to meet your high capacity needs.
The high throughput solution for newborn hemoglobin disorders screening.
Large menu with high quality results on gel electrophoresis.
Efficiency re-dIFined.
Authentically clear!
Small Footprint - Big Impact.
a) Sickle-cell disease details - World Health Organization
c) Ghosh K, Ghosh K, Agrawal R, Nadkarni AH. Recent advances in screening and diagnosis of hemoglobinopathy. Expert Rev Hematol. 2020 Jan;13(1):13-21. doi: 10.1080/17474086.2019.1656525. Epub 2019 Dec 22. PMID: 31432725.
d) Tuo Y, Li Y, Li Y, Ma J, Yang X, Wu S, Jin J, He Z. Global, regional, and national burden of thalassemia, 1990-2021: a systematic analysis for the global burden of disease study 2021. EClinicalMedicine. 2024 May 6;72:102619. doi: 10.1016/j.eclinm.2024.102619. PMID: 38745964; PMCID: PMC11090906
e) Therrell BL Jr. Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026. Int J Neonatal Screen. 2026 Feb 17;12(1):8. doi: 10.3390/ijns12010008. PMID: 41718422; PMCID: PMC12922127
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