Page 218 - Haematologica Atlas of Hematologic Cytology

re re re re B B Proteins involved in in in in in RBC membrane defects and the resulting phenotypes are reported in in in in in Table 1 Figure B B Schema c c c c c c c c representa on on on on of red blood cell (R ) ) ) membrane membrane er er er cal (the ankyrin complex) complex) and and horizon tal (4 1R complex) complex) interac ons between RBC membrane membrane proteins and and the the underlying cytoskeleton are reported Table 1 Defects of red blood cell cytos eleton resul ng in hemoly c c c c anemias
Protein ene/Posi on Func on Phenotype
Red blood cell morphology
-spectrin
SPTA1/ 1q23 1 1 1 Membrane skeletal network
HS HE HPP
Spherocytes (3-25%) anisopoykilocytosis Ovalo/elliptocytes (5-90%)
Bizarre forms anisocytosis fragments micropoikilocytes microspherocytes
-spectrin
SPTB/ 14q23 3 3 Membrane skeletal network
HS HE Sphero/ovalocytes Elliptocytes
Ankyrin
ANK1/ 8p11 21
er er cal interac ons HS Spherocytes Protein Band 3 SLC4A1/ 17q21 31
Anion exchange channel Link to glycoly c c c enzymes er er cal interac ons HS SAO
HSt Spherocytes mushroom cells Ovalocytes/macro-ovalocytes stomatocytes (some of them with two transverse slits) Stomatocytes
Protein 4 2 EPB42/ 15q15 2 2 Stabilize band3/ ankyrin complex HS Spherocytes Protein 4 1 EPB41/ 1p35 3 3 Stabilize spectrin- ankyrin contact
HE Elliptocytes
(variable number)
Glycophorin C GYPC/ 2q14 3 Gerbich - blood group
HE Elliptocytes
FAM38A
PIEZO1/ 16q24 3 Mechanosensi ve ion channel HX Polyglobulia
Stomatocytes
macrocytosis
Gardos channel KCa3 1 KCNN4/ 19q13 31
Calcium ac vated K+ channel HSt Rare stomatocytes Rh associated Glycoprotein
RHAG/ 6p12 3 Rh - blood group
OHSt 10-20% Stomatocytes
GLUT1 SLC2A1/ 1p34 2 2 Glucose transporter
CHC
Stomatocytes/echinocytes
ABC transpor- ter superfamily
ABCB6 Porphyrin transporter
Fam PHYK
10-20% Stomatocytes
HS: Hereditary Hereditary Hereditary Hereditary Hereditary spherocytosis HE: Hereditary Hereditary Hereditary Hereditary Hereditary elliptocytosis HPP: Hereditary Hereditary Hereditary Hereditary Hereditary pyropoikilocytosis SAO: South East Asian Ovalocytosis HSt: HSt: Hereditary Hereditary Hereditary Hereditary Hereditary stomatocytosis stomatocytosis HX: Hereditary Hereditary Hereditary Hereditary Hereditary xerocytosis OHSt: Overhydrate stomatocytosis stomatocytosis CHC: Cryohydrocytosis Fam Fam PHYK: Familial pseudohyperkalaemia
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