Synonyms: HbLepore-beta-thalassemia syndrome | Lepore-beta-thalassemia syndrome
A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable depending on the type of beta-thalassemia and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate compensated anemia without a need for regular blood transfusions.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Hemoglobin Lepore-beta-thalassemia syndrome?
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Advocacy Organizations
OPFORD Foundation
OPFORD.org (Open Platform for Rare Diseases) was conceived as a digital and online resource centre for orphan diseases with a primary focus of serving patients and caregivers by connecting them to curated resources regarding symptoms, causes, diagnosis and treatment. We have expanded our services to health counselling and guidance for patients and caregivers to prevent possible complications.
Organisation for Sickle Cell Anaemia Research (OSCAR) Sandwell Co Ltd
Working together with service users (clients), voluntary and statutory services and stakeholders to support and improve the quality of life for people affected by Sickle Cell and Thalassaemia.
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Clinical Trials
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