Orphanet: Hemoglobin E beta thalassemia syndrome

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

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).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Hemoglobin E-beta-thalassemia syndrome

Disease definition

Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).

ORPHA:231249

Classification level: Disorder

Synonym(s):
- E-beta-thalassemia
- HbE-beta-thalassemia syndrome
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Infancy, Childhood, Adolescent, Adult
ICD-10: D58.2
OMIM: -
UMLS: C0472777
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

Prevalence of this form is not known but HbE - beta-thalassemia is predominant in Southeast Asia.

Clinical description

Mild HbE - BT (about 15% of cases) is characterized by normal Hb levels (9-12 g/dl) and patients usually do not develop clinically significant symptoms. No treatment is required. Moderately severe forms (most cases) are characterized by decreased Hb levels (6-8 g/dl) and the clinical manifestations are similar to those of beta-thalassemia intermedia. Transfusions are not required unless infections precipitate further anemia. Iron overload may occur. Severe forms are characterized by very low Hb levels (4-5 g/dl) and patients present with manifestations similar to beta-thalassemia major and are treated as thalassemia major patients.

Genetic counseling

HbE - BT patients are compound heterozygotes for hemoglobin E and beta-thalassemia.

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

Clinical practice guidelines
English (2010) - Br J Haematol
English (2015) - Eur J Hum Genet
English (2016) - UK Thalassaemia Society

Disability

Disability factsheet
Français (2020, pdf) - Orphanet

Genetic Testing

Guidance for genetic testing
Français (2019, pdf) - ANPGM

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)