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

IllnessSphaerocytosis, hereditary; spherocytosis

Summary

Short information

Comprehensive differential diagnostic panel for Sphaerocytosis, hereditary, containing 3 guideline-curated core genes, 2 further guideline-curated core candidate genes and altogether 6 guideline-mentioned, curated genes according to the clinical signs

ID
SP9753
Number of genes
5 Accredited laboratory test
Examined sequence length
24,8 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ANK15643NM_000037.4AD, AR
EPB422166NM_000119.3AR
SLC4A12736NM_000342.4AD
SPTA17260NM_003126.4AD, AR
SPTB6987NM_001024858.4AD, AR

Informations about the disease

Clinical Comment

Certain disorders of erythrocyte membrane transport cause spherocytosis (congenital spherocytic non-immune hemolytic anemia) and thus severe anemia already in the newborn, jaundice and splenomegaly. Gallstones occur from late childhood to middle adulthood. Four forms can be distinguished by the severity of the symptoms, 2/3 of patients show a moderate form, 3-5% the severe form with dwarfism, delayed sexual development and skeletal anomalies. Sequence deviations in five genes trigger the disease pattern, ANK1 gene mutations cause half of the cases. In 75% of the cases, autosomal dominant inheritance with reduced penetrance is present, otherwise autosomal recessive, in each case with very high clinical variability in its expression. The diagnostic yield depends on the depth of the erythrocyte membrane diagnostics and is largely unknown. An inconspicuous genetic finding does not mean a reliable exclusion of the suspected clinical diagnosis.

(Basic diagnostic genes: ###)

Reference: https://www.ncbi.nlm.nih.gov/books/NBK190102/

 

Synonyms
  • Allelic: Anemia, neonatal hemolytic, fatal/near-fatal (SPTB)
  • Allelic: Blood groups, Diego, Froese, Swann, Waldner, Wright
  • Allelic: Cowden syndrome 7 (SEC23B)
  • Allelic: Cryohydrocytosis (SLC4A1)
  • Allelic: Distal renal tubular acidosis 1 (SLC4A1)
  • Allelic: Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
  • Allelic: Elliptocytosis-3 (SPTB)
  • Allelic: Malaria, resistance to (SLC4A1)
  • Allelic: Ovalocytosis, SA type (SLC4A1)
  • Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Spherocytosis, type 1 (ANK1)
  • Spherocytosis, type 2 (SPTB)
  • Spherocytosis, type 3 (SPTA1)
  • Spherocytosis, type 4 (SLC4A1)
  • Spherocytosis, type 5 (EPB42)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined