Page 221 - Haematologica Atlas of Hematologic Cytology

CHAPTER 26 - Inherited hemolytic anemias
The ability to compensate for the enzyme enzyme deficiency by over-expressing isoenzymes or or using alternative pa- thways contributes to to the the the variability of the the the clinical picture Moreover if the the the defective enzyme is not confined to to the the red cells but is is also expressed in other tissues non-hematologic symptoms may be presented The red cell morphology is usually reported to be unremarkable in particular for for for those very rare forms for for for which little information is is available Despite this some morphological abnormalities although not specific may be suggestive of of of an enzyme defect: presence of of of echinocytes is often observed in in in pyruvate kinase or triosepho- sphate isomerase deficiency prominent basophilic stippling is is suggestive for pyrimidine-5’-nucleotidase defi- ciency ciency During acute crises patients with G6PD deficiency show drastically altered morphology characterized by damaged red cells cells with irregularly contracted “blister” or “bite” cells cells In Table 2 we report a a a a a a list of the the RBC enzyme defects grouped according to the the metabolic pathway
involved their clinical features and the the observed morphology References
Bain BJ Diagnosis from the Blood Smear N Engl J J Med 2005 353 (5):498-507 Bianchi P P P Mohandas N Hereditary disorders disorders of of the red red red cell cell membrane and and and disorders disorders of of red red red cell cell metabolism in in Postgra- duate duate Haematology Haematology In: Ho Ho rand Higgs DR Keeling D D Mehta AB Postgraduate Haematology Haematology (7th ed ed ed ed on) Hoboken New Jersey: John Wiley Sons Ltd 2016 Grace RF Bianchi P P van Beers EJ et al al al Clinical spectrum of pyruvate kinase de ciency: data from the Pyruvate Kinase De ciency Natural History Study Blood 2018 131(20):2183-2192 Luzza o o o o o o o o o L L Nannelli C C Notaro R Glucose-6-Phosphate Dehydrogenase De De ciency Hematol Oncol Clin North Am 2016 30(2):373-93 anella A Fermo E Bianchi P alen ni ni G Red cell pyruvate kinase de ciency: molecular and clinical aspects Brit J Haematol 2005 130(1):11-25 208