GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Beta Thalassemia(Erythroblastic anemia) 
An Autosomal dominant, Autosomal recessive mode(s) within the Blood disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 HBB/3043 hemoglobin subunit beta 11p15.4 Chr11, NC_000011.10
(5225464..5227071, complement)
1608 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development