Table 1 Genetic basis of red blood cell membrane defects
From: Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias
| Â | Trasmission | Gene | Function |
|---|---|---|---|
Hereditary spherocytosis (HS) | Autosomal recessive | SPTA1 | Membrane skeletal network |
| Â | Autosomal dominant | SPTB | Membrane skeletal network |
| Â | Autosomal dominant | SLC4A1 | Anion exchange channel Link to glycoltytic enzymes Vertical interactions |
| Â | Autosomal dominant, de novo | ANK1 | Vertical interactions |
| Â | Autosomal recessive | EPB42 | Stabilize band3/ankyrin complex |
Hereditary elliptocyosis (HE) | Autosomal dominant | SPTA1 | Membrane skeletal network |
| Â | Autosomal dominant | SPTB | Membrane skeletal network |
| Â | Autosomal dominant | EPB41 | Stabilize spectrin-ankyrin contact |
Hereditary pyropoikylocytosis | Autosomal recessive | SPTA1/ SPTA1LELY SPTA1/ SPTB SPTB/SPTB | Membrane skeletal network |
Hereditary stomatocytosis (HSt) | Â | Â | Â |
Dehydrated | autosomal dominant | PIEZO1 | Mechanosensitive ion channel |
Overhydrated | autosomal dominant | RHAG | Rh -blood group |
Gardos Channelopathy | autosomal dominant, de novo | KCNN4 | Potassium Ca2 + -Activated Channel |