Table 3.
Hereditary hemolytic anemia-related genes recommended for gene panel testa).
| Gene symbol | Gene name | OMIM | Phenotype | Inheritance |
|---|---|---|---|---|
| AK1 | Adenylate kinase 1 | 103000 | Hemolytic anemia due to adenylate kinase deficiency | AR |
| ANK1 | Ankyrin 1 | 612641 | Spherocytosis, type 1 | AD, AR |
| EPB41 | Erythrocyte membrane protein band 4.1 | 130500 | Elliptocytosis-1 | AD, AR |
| EPB42 | Erythrocyte membrane protein band 4.2 | 177070 | Spherotycosis, type 5 | |
| G6PD | Glucose-6-phosphate dehydrogenase | 305900 | Hemolytic anemia, G6PD deficient | XLD |
| GCLC | Glutamate-cysteine ligase catalytic subunit | 606857 | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency | AR |
| GPI | Glucose-6-phosphate isomerase | 172400 | Hemolytic anemia, nonspherocytic, glucose phosphate isomerase deficiency | AR |
| GPX1 | Glutathione peroxidase 1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
| GSR | Glutathione-disulfide reductase | 138300 | Hemolytic anemia due to glutathione reductase deficiency | |
| GSS | Glutathione synthetase | 601002 | Hemolytic anemia due to glutathione synthetase deficiency | AR |
| HK1 | Hexokinase 1 | 142600 | Hemolytic anemia due to hexokinase deficiency | AR |
| KCNN4 | Potassium calcium-activated channel subfamily N member 4 | 602754 | Dehydrated hereditary stomatocytosis 2 | AD |
| NT5C3A | 5’-nucleotidase, cytosolic IIIA | 6062240 | Anemia, hemolytic, due to UMPH1 deficiency | AR |
| PGK1 | Phosphoglycerate kinase 1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PIEZO1 | Piezo type mechanosensitive ion channel component 1 | 611184 | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | AD |
| PKLR | Pyruvate kinase L/R | 609712 | Pyruvate kinase deficiency | AR |
| RHAG | Rh associated glycoprotein | 180297 | Overhydrated hereditary stomatocytosis | AD |
| SLC4A1 | Solute carrier family 4 member 1 | 109270 | Spherocytosis, type 4, Ovalocytosis, SA type, distal renal tubular acidosis 4 with hemolytic anemia | AD/AR |
| SPTA1 | Spectrin alpha, erythrocytic 1 | 182860 | Elliptocytosis-2, pyropoikilocytosis, spherocytosis, type 3 | AD/AR |
| SPTB | Spectrin beta, erythrocytic | 182870 | Elliptocytosis-3, spherocytosis, type 2 | AD/AR |
| TPI1 | Triosephosphate isomerase 1 | 190450 | Hemolytic anemia due to triosephosphate isomerase deficiency | AR |
| UGT1A1 | UDP glucuronosyltransferase family1 membrane A1 | 191740 | Crigler-Najjar syndrome, Gilbert syndrome | AR |
a)Other genes such as HBA1, HBA2, HBB may be included for differential diagnosis of hemoglobinopathies.
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; OMIM, Online Mendelian inheritance in Man; XLD, X-linked disease; XLR, X-linked recessive.