Beta-thalassemia intermedia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 231222
OMIM Id: 613985
ICD-10: D56.1
UMLs: C0472767
MeSH:
MedDRA:
Snomed: 191189009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Beta-thalassemia
 -Rare endocrine disease
 -Rare genetic disease
 -Rare hematologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
2
(HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
3
(HPO:0012437) Abnormal gallbladder morphology Frequent [Orphanet] 17 / 7739
4
(HPO:0002896) Neoplasm of the liver Occasional [Orphanet] 17 / 7739
5
(HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
6
(HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
7
(HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
8
(HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
9
(HPO:0004936) Venous thrombosis Occasional [Orphanet] 41 / 7739
10
(HPO:0001935) Microcytic anemia Very frequent [Orphanet] 32 / 7739
11
(HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
12
(HPO:0011031) Abnormality of iron homeostasis Frequent [Orphanet] 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The ...
Diagnosis OMIM - Prenatal Diagnosis

By means of a simplified method for trophoblast biopsy together with restriction endonuclease analysis of fetal DNA, Old et al. (1982) made first-trimester prenatal diagnosis in the case of 3 fetuses at risk ...

Clinical Description OMIM Patients with thalassemia major present in the first year of life with severe anemia; they are unable to maintain a hemoglobin level about 5 gm/dl. Clinical details of this disorder have been detailed extensively in numerous monographs and ...
Molecular genetics OMIM For a review of mutations in the HBB gene and the beta-globin gene cluster causing beta-thalassemia, see 141900.

Uda et al. (2008) found that the C allele of dbSNP rs11886868 in the BCL11A gene (606557) was ...

Population genetics OMIM Beta-thalassemia is one of the most common autosomal recessive disorders worldwide. It is highly prevalent in populations in the Mediterranean, Middle East, Transcaucasus, Central Asia, Indian subcontinent, and Far East. It is also relatively common in populations of ...