A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 15, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 15, 2026
Documentation for sickle cell-hemoglobin C disease syndrome is limited due to its rarity and the lack of systematic clinical studies. The condition affects a small number of individuals, making comprehensive research challenging. Additionally, the overlapping clinical features with other hemoglobinopathies complicate the ability to characterize this syndrome thoroughly. Despite these challenges, ongoing research aims to improve understanding and treatment options.
To navigate your care, consider consulting a hematologist with expertise in hemoglobinopathies, as they can provide specialized management for sickle cell-hemoglobin C disease syndrome. You may also find valuable support through organizations such as the Sickle Cell Association of Texas (https://sicklecelltx.org) and the Sickle Cell Disease Foundation of California (https://scdfc.org). Participating in a patient registry or natural history study can also help contribute to the understanding of this condition.
There are currently several orphan drugs in development for sickle cell-hemoglobin C disease syndrome, including 15(S)-hydroxy-(5Z,8Z,11Z,13E,17Z)-eicosapentaenoic acid ethyl ester, beta-nicotinamide mononucleotide, and rilzabrutinib. Additionally, there is one active clinical trial related to this condition. For more information on ongoing research, you can visit the ClinicalTrials.gov search page: https://clinicaltrials.gov/search?cond=sickle%20cell-hemoglobin%20c%20disease%20syndrome.
Actionable guidance for navigating care for sickle cell-hemoglobin c disease syndrome
To navigate your care, consider consulting a hematologist with expertise in hemoglobinopathies, as they can provide specialized management for sickle cell-hemoglobin C disease syndrome. You may also find valuable support through organizations such as the Sickle Cell Association of Texas (https://sicklecelltx.org) and the Sickle Cell Disease Foundation of California (https://scdfc.org). Participating in a patient registry or natural history study can also help contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the sickle cell-hemoglobin c disease syndrome community
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 15, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 10 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
AI-curated news mentioning sickle cell-hemoglobin c disease syndrome
Updated Feb 18, 2026
A retrospective study from Türkiye compares mortality and complications after total hip arthroplasty in patients with sickle cell disease. The findings contribute to understanding surgical risks in this patient population.
Vertex Pharmaceuticals and CRISPR Therapeutics project that revenues from Casgevy, a gene therapy for sickle cell disease and beta thalassemia, will nearly triple by 2026 as patient access improves. This ambitious goal follows a year of slow uptake for the therapy.
Yale School of Medicine discusses the potential of gene-editing treatments for rare genetic diseases, highlighting the FDA's recent approval of a CRISPR-based therapy for sickle cell disease in 2023. This marks a significant advancement in the application of CRISPR technology.
The S 735 bill, aimed at enhancing research, surveillance, prevention, and treatment for sickle cell disease and other heritable blood disorders, has been introduced and referred to the Committee on Health, Education, Labor, and Pensions. This legislative move could impact funding and focus on these conditions.
The House has introduced HR 1796, aimed at enhancing research, surveillance, prevention, and treatment for sickle cell disease and other heritable blood disorders. The bill has been referred to the House Committee on Energy and Commerce for further consideration.