Today, on Sickle Cell Awareness Day, we recognize not only the patients and families impacted by this devastating disease - but also the transformative role of genetics in confronting it.
Sickle Cell Disease (SCD) is a rare, inherited blood disorder caused by variants in the HBB gene (Hemoglobin Subunit Beta). It is one of the most well-known examples of a single-gene condition - a monogenic disorder with life-threatening consequences. And yet, despite decades of research, many individuals affected by SCD still lack access to timely diagnosis, personalized care, or targeted therapies.
At Genomenon, we believe genetics is the starting point for solving these challenges. And today, we’re reaffirming our commitment to rare disease communities by offering free access to expertly curated variant data for the HBB gene through our Mastermind® Genomic Intelligence Platform.
The HBB Gene: One Gene, Life-Altering Impact
The HBB gene encodes the beta-globin subunit of hemoglobin - the protein that carries oxygen in red blood cells. A single point variant in HBB (c.20A>T; p.Glu6Val) leads to the production of abnormal hemoglobin S (HbS). This variant causes red blood cells to take on a rigid, sickle shape, obstructing blood flow and resulting in chronic pain, stroke, organ damage, and reduced life expectancy.
But the story doesn’t end there.
The HBB gene harbors a wide spectrum of additional pathogenic and likely pathogenic variants - many of which are poorly characterized or inconsistently reported in public databases. These variants may influence disease severity, modify phenotype, or contribute to atypical presentations. As a result, accurate interpretation at the variant level is critical for guiding care.
Variant Interpretation is the Engine of Precision Medicine
Sickle Cell Disease is one of over 7,000 rare diseases for which the genetic cause is known, but the clinical path forward remains unclear without trusted variant data. At Genomenon, we’ve built our genomic intelligence platform around a core truth: literature-based evidence is the foundation of reliable interpretation.
Through Mastermind, we provide:
- Manually curated evidence for HBB variants, backed by expert review
- Contextual insights from the full breadth of scientific literature
- ACMG-compliant classification support for clinical relevance
Whether you're confirming a diagnosis, investigating disease modifiers, or developing a gene-editing therapy, the accuracy of your genomic interpretation can directly affect patient outcomes.
Our Role in the Rare Disease Ecosystem
Sickle Cell Disease represents a broader challenge faced across rare disease genomics: the need for high-quality, accessible, and clinically meaningful variant data. While public databases offer valuable resources, many contain conflicting or incomplete annotations - especially for rare or underrepresented populations.
Our team of expert scientists at Genomenon addresses this gap by curating the medical literature at scale, ensuring that even subtle or emerging variant-disease relationships are captured with precision. We support:
- Genetic labs and hospitals with high-throughput variant curation
- Pharma and biotech teams developing precision therapies
- Patient advocacy groups seeking answers through better data access
🎗️ Free HBB Variant Access — Because Action Matters
In recognition of Sickle Cell Awareness Day, we are offering free access to curated variant data for the HBB gene in Mastermind throughout the month. We do this to empower those working to improve lives - clinicians, researchers, and advocates alike - with the genomic insights they need to make informed, life-changing decisions.
Access Free HBB Variant Data in Mastermind - because genetics is not just about code - it's about clarity, care, and connection.
And today, we stand with the sickle cell community by ensuring that science is on their side.
