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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessHaemochromatosis, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Hemochromatosis comprising 1 guideline-recommended core gene and altogether 11 curated genes according to the clinical signs

ID
HP0700
Number of genes
11 Accredited laboratory test
Examined sequence length
11,5 kb (Core-/Core-canditate-Genes)
15,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + SNP

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BMP61549NM_001718.6AD
CP3198NM_000096.4AR
HAMP255NM_021175.4AR
HFE1047NM_000410.4AR
HJV1281NM_213653.4AR
SLC40A11716NM_014585.6AD
TFR22406NM_003227.4AR
BMP21191NM_001200.4n.k.
CYBRD1474NM_001127383.2AR
FTH1552NM_002032.3AD
TF2097NM_001063.4AR

Informations about the disease

Clinical Comment

Hereditary haemochromatosis is mostly caused by biallelic mutations in the HFE gene. HFE-associated hemochromatosis is characterised by excessive iron storage in the liver, skin, pancreas, heart, joints and anterior pituitary gland. Early symptoms in untreated individuals include abdominal pain, weakness, lethargy, weight loss, arthralgia, diabetes mellitus and increased risk of liver cirrhosis if serum ferritin is higher than 1000 ng/ml. Other findings may include a progressive increase in skin pigmentation, heart failure and/or arrhythmias, arthritis as well as hypogonadism. The onset of the disease is usually between the ages of 40 and 60. Differential diagnoses are juvenile hereditary haemochromatosis (HJV, HAMP), TFR2-associated haemochromatosis, SCL40A1- and BMP6-associated iron overload and acoeruloplasminaemia. HFE haemochromatosis is predominantly recessively inherited with low penetrance regarding clinical symptoms of iron overload. The other forms of hemochromatosis usually follow also autosomal recessive inheritance.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1440/

 

Synonyms
  • Alias: Iron overload disease
  • Allelic: Alzheimer disease, susceptibility to (HFE)
  • Allelic: Brachydactyly, type A2 (BMP2)
  • Allelic: Cerebellar ataxia (CP)
  • Allelic: Hypoceruloplasminemia, hereditary (CP)
  • Allelic: Microvascular complications of diabetes 7 (HFE)
  • Allelic: Porphyria cutanea tarda, susceptibility to (HFE)
  • Allelic: Porphyria variegata, susceptibility to (HFE)
  • Allelic: Short stature, facial dysmorphism, skeletal anomalies with/-out cardiac anomalies (BMP2)
  • Allelic: Transferrin serum level QTL2 (HFE)
  • Atransferrinemia (TF)
  • HFE hemochromatosis, modifier of (BMP2)
  • Hemochromatosis, type 2A (HJV)
  • Hemochromatosis, type 2B (HAMP)
  • Hemochromatosis, type 3 (TFR2)
  • Hemochromatosis, type 4 (SLC40A1)
  • Hemochromatosis, type 5 (FTH1)
  • Hemochromatosis, type 5 [ORPHA:447792] (BMP6)
  • Hemochromatosis/HFE1 (HFE)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined