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Beta-thalassemia intermedia
1 OMIM reference -
1 associated gene
36 connected diseases
12 signs/symptoms
Disease Type of connection
Autosomal dominant methemoglobinemia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Beta-thalassemia major
Delta-beta-thalassemia
Dominant beta-thalassemia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Hb Bart's hydrops fetalis
Hemoglobin H disease
Autosomal agammaglobulinemia
Cowden syndrome
Huntington disease
Juvenile Huntington disease
Proteus syndrome
Richieri Costa-Pereira syndrome
Thrombocytopenia - absent radius
Hemoglobinopathy Toms River
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
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 -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HBB P68871141900
Very frequent
- Anaemia
- Anomalies of bones / skeletal anomalies
- Hemoglobinosis / hemoglobinopathy
- Microcytic anemia
- Splenomegaly

Frequent
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperferritinemia / iron overload

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Pulmonary hypertension
- Venous thrombosis / phlebitis / thrombophlebitis