IllnessSphaerocytosis, hereditary; spherocytosis
Summary
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
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Informations about the disease
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/
- 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)
- AD
- AR
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined