x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Hemoglobin C-beta-thalassemia syndrome

Disease definition

Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.

ORPHA:231242

Classification level: Disorder
  • Synonym(s):
    • C-beta-thalassemia
    • HbC-beta-thalassemia syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: D58.2
  • OMIM: -
  • UMLS: C0221020
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence of this form is not known but it is predominant in African populations.

Clinical description

Patients are usually asymptomatic and diagnosed during routine tests. When present, clinical manifestations are moderate anemia and splenomegaly. Blood transfusions are rarely needed.

Etiology

HbC - BT patients are compound heterozygotes for hemoglobin C and beta-thalassemia.

Diagnostic methods

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.

Expert reviewer(s):  Pr Renzo GALANELLO - Dr Raffaella ORIGA - Last update: May 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011)

Detailed information

Guidelines

Disability

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.