ErkrankungErythrozytenmembran-Defekte, Differentialdiagnose

NGS +

Erythrozytenmembran-Defekte sind in Mitteleuropa die haufigste Ursache angeborener hamolytischer Anamien wie hereditare Spharozytose, Elliptozytose, seltener Pyropoikilozytose, Ovalozytose, Stomatozytose

• Allelic: Dystonia 9 (SLC2A1)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Lymphatic malformation 6 (PIEZO1)
• Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Anemia, hemolytic, Rh-null, regulator type (RHAG)
• Anemia, neonatal hemolytic, (near-)fatal (SPTB)
• Cowden syndrome 7 (SEC23B)
• Cryohydrocytosis (SLC4A1)
• Dehydrated hereditary stomatocytosis with/-out pseudohyperkalemia, perinatal edema (PIEZO1)
• Dyserythropoietic anemia, congenital, type II (SEC23B)
• Elliptocytosis-1 (EPB41)
• Elliptocytosis-2 (SPTA1)
• Elliptocytosis-3 (SPTB)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Gilbert syndrome (UGT1A1)
• Hyperbilirubinemia, familial transient neonatal (UGT1A1)
• Ovalocytosis, 5A type (SLV4A1)
• Overhydrated hereditary stomatocytosis (RHAG)
• Pyropoikilocytosis (SPTB)
• Renal tubular acidosis, distal, AD, AR (SLC4A1)
• Spherocytosis type 1 (ANK1)
• Spherocytosis type 2 (SPTB)
• Spherocytosis type 3 (SPTA1)
• Spherocytosis, type 4 (SLC4A1)
• Spherocytosis, type 5 (EPB42)
• Stomatocytosis (PIEZO1)
• Xerocytosis (PIEZO1)