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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBeta globinopathies

Request form illness

Summary

Short information

Comprehensive single gene sequence analysis according to clinical suspicion HBB disorder

ID
HS1923
Number of genes
1 Accredited laboratory test
Examined sequence length
0,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
HBB444NM_000518.5AD, AR

Informations about the disease

Clinical Comment

Large group of disorders

Deficiency (Beta+) or absence (Beta0) of beta globin chains; 3 main types (minor, intermedia, major) from asymptomatic to splenomegaly/anemia

 

Synonyms
  • Alias: anormale Hämoglobine
  • Beta-Thalasämie (HBB)
  • Beta-thalassemia intermedia (HBB)
  • Beta-thalassemia major (HBB)
  • Delta-beta thalassemia (HBB)
  • Erythrocytosis 6 (HBB)
  • Hbc-Krankheit (HBB)
  • Heinz body anemia (HBB)
  • Hemoglobin C disease (HBB)
  • Hemoglobin C-beta-thalassemia syndrome (HBB)
  • Hemoglobin D disease (HBB)
  • Hemoglobin E disease (HBB)
  • Hemoglobin E-beta-thalassemia syndrome (HBB)
  • Hemoglobin Lepore-beta-thalassemia syndrome (HBB)
  • Hereditary persistence of fetal hemoglobin (HBB)
  • Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (HBB)
  • Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome (HBB)
  • Hämoglobin-E Krankheit (HBB)
  • Hämoglobinopathien bei instabilem Hb (HBB)
  • Malaria, resistance to (HBB)
  • Methaemoglobinemia, beta type (HBB)
  • Sichelzellenanämie, Sichelzellenkrankheit (HBB)
  • Sickle cell anemia (HBB)
  • Sickle cell-beta-thalassemia disease syndrome (HBB)
  • Sickle cell-hemoglobin C disease syndrome (HBB)
  • Sickle cell-hemoglobin D disease syndrome (HBB)
  • Sickle cell-hemoglobin E disease syndrome (HBB)
  • Thalassemia, beta (HBB)
  • Thalassemia-beta, dominant inclusion-body (HBB)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined