Beta-thalassemia major
General Information (adopted from Orphanet):
Synonyms, Signs: |
Cooley anemia Mediterranean anemia |
Number of Symptoms | 49 |
OrphanetNr: | 231214 |
OMIM Id: |
613985
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ICD-10: |
D56.1 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000929) | Abnormality of the skull | Frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0012371) | Hyperplasia of midface | Frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000505) | Visual impairment | Occasional [Orphanet] | 297 / 7739 | |||
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(HPO:0000642) | Red-green dyschromatopsia | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0000504) | Abnormality of vision | Occasional [Orphanet] | 22 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0100851) | Abnormal emotion/affect behavior | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0008207) | Primary adrenal insufficiency | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0000829) | Hypoparathyroidism | Occasional [Orphanet] | 22 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Occasional [Orphanet] | 141 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0002857) | Genu valgum | Frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0000765) | Abnormality of the thorax | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0005059) | Arthralgia/arthritis | Occasional [Orphanet] | 141 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Occasional [Orphanet] | 113 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001971) | Hypersplenism | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0012437) | Abnormal gallbladder morphology | Frequent [Orphanet] | 17 / 7739 | |||
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(HPO:0002896) | Neoplasm of the liver | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0002910) | Elevated hepatic transaminases | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0001396) | Cholestasis | Frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0001394) | Cirrhosis | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0000980) | Pallor | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Occasional [Orphanet] | 192 / 7739 | |||
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(HPO:0001695) | Cardiac arrest | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0002092) | Pulmonary hypertension | Occasional [Orphanet] | 109 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0001935) | Microcytic anemia | Very frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0011906) | Reduced beta/alpha synthesis ratio | 3 / 7739 | ||||
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(HPO:0011902) | Abnormal hemoglobin | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0004840) | Hypochromic microcytic anemia | 15 / 7739 | ||||
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(HPO:0004936) | Venous thrombosis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0001876) | Pancytopenia | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0001945) | Fever | Frequent [Orphanet] | 218 / 7739 | |||
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(HPO:0011031) | Abnormality of iron homeostasis | Frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0040075) | Hypopituitarism | Occasional [Orphanet] | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |