Page 725 - Williams Hematology ( PDFDrive )

700 Part VI: The Erythrocyte Chapter 47: Erythrocyte Enzyme Disorders 701

TABLE 47–2. Red Cell Enzyme Abnormalities Leading to Hemolytic Disease
Diagnosis (Reference)
Red Cell Response to Approximate
Enzyme Clinical Features Inheritance Morphology Screening Test Assay Splenectomy * Frequency †
Hexokinase HNSHA AR Unremarkable — 580 + + Rare
Glucose HNSHA; neurologic AR Unremarkable 580 580 + + + Unusual
phosphate abnormalities
isomerase
Phosphofruc- HNSHA and/or AR Unremarkable — 580 0 Rare
tokinase muscle glycogen
storage disease
Aldolase HNSHA and mild AR Unremarkable — 580 ? Very rare
liver glycogen
storage; myopathy,
mental retardation
Triose- HNSHA and severe AR Unremarkable 580 580 ? Rare
phosphate neuromuscular
isomerase disease
Phosphoglyc- HNSHA; myoglobi- SL Unremarkable — 580 + + Rare
erate kinase nuria neuromuscu-
lar disorder
Pyruvate HNSHA AR Usually unre- 580 580 + + Unusual
kinase markable;
occasionally
contracted
echinocytes
Glucose-6- HNSHA; drug- or SL Usually unre- 580 580 ± Very common
phosphate infection-induced markable;
dehydrogenase hemolysis; favism rarely "bite
cells"
Glutathione Drug-sensitive AR Unremarkable 580 580 ? Very rare
reductase hemolytic anemia
and favism
Glutamate HNSHA; drug- or AR Unremarkable 644 645 ? Very rare
cysteine infection-induced
synthetase hemolysis; neuro-
logic abnormalities
Glutathione HNSHA; drug- or AR Usually 644 645 0 Rare
synthetase infection-induced unremarkable
hemolysis; neuro-
logic defect and
5-oxoprolinuria in
some cases
Pyrimidine HNSHA; mental AR Prominent 646 647 0 Unusual
5′-nucleotidase retardation in some stippling
cases
Adenylate HNSHA AR Unremarkable — 580 ? Rare
kinase
Adenosine HNSHA AD Unremarkable — 580 ? Very rare
deaminase
(increased
activity)

AD, autosomal dominant; AR, autosomal recessive; HNSHA, hereditary nonspherocytic hemolytic anemia; SL, sex-linked; —, not applicable.
*On a scale of 0 to 4+, where 4+ is a complete response. In many cases, data are meager.
† Very common if incidence is >5 percent. Unusual if >100 cases reported. Rare if 10 to 100 cases reported. Very rare if <10 cases reported.
‡ Recent reports.

Kaushansky_chapter 47_p0689-0724.indd 700 9/17/15 6:44 PM