Page 220 - Haematologica Atlas of Hematologic Cytology

Table 2 Red blood cell enzyme defects resul ng in hemoly c c c anemias
Embden-Meyerof pathway
Enzyme
ene/Posi on N° of cases
Phenotype
RBC morphology Hexokinase
HK1/10q22 1 1 1 20 CNSHA
Mild anisopoikilocytosis
Glucosephosphate isomerase GPI/19q13 11 >50 fam CNSHA
Mild macrocytosis and anisopoikilocytosis
Phosphofructoki- nase PFK-M/12q13 11 PFK-L/21q22 3 3 75
Erythrocytosis minimal hemolysis Tarui disease disease muscle disease disease Mild anisopoikilocytosis
Aldolase
ALDOA/16p11 2 6 CNSHA
mental retarda- on dysmorphism
Unremarkable
Triosephosphate isomerase TPI1/12p13
75
CNSHA
neuromuscular disease infec ons Anisopoikilocytosis dacryocytes echinocytes Phosphoglycerate kinase PGK1/X13 3 3 40
CNSHA
neuromuscular disease Unremarkable
Pyruvate kinase PKLR/1q22
>500 fam CNSHA
Anisopoikilocytosis some echinocytes poikilocytes rare erythroblasts
Rapoport-Luebering shunt
Hexose-monophosphate shunt
Glutathione metabolism Bisphosphoglyce- rate mutase
BPGM/7q33
6 fam Erythrocytosis Unremarkable
Glucose-6- phosphate dehydrogenase
G6PD/Xq28
>400x106
Acute HA/favism CNSHA
(type1)
During acute crisis:
rare erythroblasts
damaged red cells cells with irregularly contracted blister and bite cells cells Glutathione synthetase
GSS/20q11 22 >50 fam CNSHA
metabolic acidosis neurological symptoms drug/infec on-induced hemolysis Unremarkable
Glutathione reductase
GSR/8p21 1 1 2 fam Induced oxida ve HA favism neonatal jaundice cataract
Unremarkable
-Glutamylcystei- ne synthetase
GCLC/ 6p12 1 1 1 1 GCLM/1p21
12 fam CNSHA
oxida ve HA HA metabolic acidosis neurological symptoms Unremarkable
Glutathione peroxidase
GPX1/3p21 3 3 10 fam Acute intravascular hemolysis Unremarkable
ucleo de metabolism Adenosine deaminase (hyperac vity)
ADA1/20q13 12 3 fam CNSHA
Unremarkable
Adenylate kinase AK1/9q34 11 12 fam CNSHA
(motor impair- ment reported)
Mild anisopoikilocytosis
Pirimidin 5’ nucle- o dase NT5C3A/7p14 3 3 >60 fam CNSHA
Basophilic s
s
s
s
s
ppling some spherocytes
NADH-cytochrome b5 reductase
CYB5R3/22q13 2 2 2 50 Methemoglobinemia neuromuscular disease Unremarkable
CNSHA: Chronic non-spherocy c c c c c hemoly hemoly c c c c c anemia anemia HA: HA: hemoly hemoly c c c c c anemia anemia fam: families
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