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Delta-beta-thalassemia
1 OMIM reference -
3 associated genes
3 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
Beta-thalassemia major
1 OMIM reference -
1 associated gene
48 signs/symptoms
Delta-beta-thalassemia
Beta-thalassemia major

HBB
(UniProt - OMIM)
 HBB
(UniProt - OMIM)
HBD
(UniProt - OMIM)
HBG1
(UniProt - OMIM)

COMMON
GENES 		HBB


Citations in the biomedical literature:


Delta-beta-thalassemia
HBB HBD HBG1
Beta-thalassemia major



Delta-beta-thalassemia
Beta-thalassemia major

Synonym(s):
(no synonyms)

Synonym(s):
- Cooley anemia
- Mediterranean anemia
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Microcytic anemia

Delta-beta-thalassemia
Beta-thalassemia major

(no more signs)

Very frequent
- Autosomal recessive inheritance
- Hypersplenism
- Pallor

Frequent
- Anomalies of teeth and dentition
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Depressed nasal bridge
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Genu valgum
- Hepatitis / icterus / cholestasis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperferritinemia / iron overload
- Late puberty / hypogonadism / hypogenitalism
- Malabsorption / chronic diarrhea / steatorrhea
- Muscle weakness / flaccidity
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Prominent premaxillary region / midface
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skull / cranial anomalies
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Abnormal hepatic enzymes / transaminases
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Anomalies of chest / thorax / trunk
- Articular / joint pain / arthralgia
- Bone marrow failure / pancytopenia
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cirrhosis
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Cortico-adrenal hypoplasia / insufficiency
- Diabetes mellitus
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hearing loss / hypoacusia / deafness
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Hypoparathyroidy
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypothyroidy
- Mild visual loss / impaired visual acuity
- Night blindness / hemeralopia
- Pulmonary hypertension
- Venous thrombosis / phlebitis / thrombophlebitis