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Hemoglobin C-beta-thalassemia syndrome
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.
ORPHA:231242Classification level: Disorder
- HbC-beta-thalassemia syndrome
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: -
- ICD-10: D58.2
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence of this form is not known but it is predominant in African populations.
Patients are usually asymptomatic and diagnosed during routine tests. When present, clinical manifestations are moderate anemia and splenomegaly.
HbC - BT patients are compound heterozygotes for hemoglobin C and beta-thalassemia.
Hematological findings always reveal microcytosis and hypochromia. Blood smear shows distinctive HbC crystals with straight parallel edges, target cells, and irregularly contracted cells with features of thalassemia such as microcytosis.