Table 1 Genes included in our panel classified according to phenotype
From: Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
Phenotype | Genes included in the panel |
|---|---|
Membranopathy | ANK1, SPTB, SPTA1, SLC4A1, EPB42, EPB41, PIEZO1, RHAG |
Enzymopathy | G6PD, PKLR, AK1, AK2, ALAS2, GPI, NT5C3A, GCLC, GPX1, GSR, GSS, HK1, BPGM, TPI1, PFKL, PFKM, PGK1, ALDOA |
Hemoglobinopathy | HBB, HBA1, HBA2, HBD |