Beta-thalassemia major

General Information (adopted from Orphanet):

Synonyms, Signs: Cooley anemia
Mediterranean anemia
Number of Symptoms 49
OrphanetNr: 231214
OMIM Id: 613985
ICD-10: D56.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
2
(HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
3
(HPO:0000929) Abnormality of the skull Frequent [Orphanet] 53 / 7739
4
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
5
(HPO:0012371) Hyperplasia of midface Frequent [Orphanet] 10 / 7739
6
(HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
7
(HPO:0000642) Red-green dyschromatopsia Occasional [Orphanet] 25 / 7739
8
(HPO:0000504) Abnormality of vision Occasional [Orphanet] 22 / 7739
9
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
10
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
11
(HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
12
(HPO:0000763) Sensory neuropathy Frequent [Orphanet] 78 / 7739
13
(HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
14
(HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
15
(HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
16
(HPO:0000829) Hypoparathyroidism Occasional [Orphanet] 22 / 7739
17
(HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
18
(HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
19
(HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
20
(HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
21
(HPO:0000765) Abnormality of the thorax Occasional [Orphanet] 64 / 7739
22
(HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] 141 / 7739
23
(HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
24
(HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
25
(HPO:0001971) Hypersplenism Very frequent [Orphanet] 8 / 7739
26
(HPO:0012437) Abnormal gallbladder morphology Frequent [Orphanet] 17 / 7739
27
(HPO:0002896) Neoplasm of the liver Occasional [Orphanet] 17 / 7739
28
(HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
29
(HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
30
(HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
31
(HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
32
(HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
33
(HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
34
(HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
35
(HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
36
(HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
37
(HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
38
(HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
39
(HPO:0001935) Microcytic anemia Very frequent [Orphanet] 32 / 7739
40
(HPO:0011906) Reduced beta/alpha synthesis ratio 3 / 7739
41
(HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
42
(HPO:0004840) Hypochromic microcytic anemia 15 / 7739
43
(HPO:0004936) Venous thrombosis Occasional [Orphanet] 41 / 7739
44
(HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
45
(HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
46
(HPO:0011031) Abnormality of iron homeostasis Frequent [Orphanet] 16 / 7739
47
(HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
48
(HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
49
(HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 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 ...