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.
<p>Early and accurate screening for hemoglobinopathies helps laboratories and healthcare providers identify individuals at risk, enabling timely treatment, reducing morbidity and mortality, and improving patient care. Screening programs also support carrier detection, informed reproductive choices, and broader public health efforts to reduce the impact of inherited blood disorders.</p>
Key figures
≈ 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
How do we diagnose hemoglobinopathies?
Hemoglobinopathies encompass a wide range of clinical presentations, from mild and often asymptomatic findings such as microcytosis to severe, life‑threatening conditions like Sickle Cell Disease or Hb Bart’s hydrops fetalis, which can lead to multi‑organ damage and may require lifelong transfusion support.
The diagnosis of hemoglobinopathies and clinical follow‑up rely on detecting abnormal hemoglobin fractions in electrophoresis profiles from newborns to adults, and accurately quantifying Hb A2 and Hb F fractions present.
Knowledge & Science
No content available.
Instruments for diagnosing Hemoglobin Disorders
No content available.
References
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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