Lyapichev, Kirill A

Glucose-6-phosphate (G6PD) deficiency is the most prevalent enzyme deficiency and is estimated to affect 400 million people. The patients are usually asymptomatic and diagnosed following hemolytic episodes triggered by oxidative stress. Another type of hemolytic anemia known as dehydrated hereditary stomatocytosis (DHSt) is estimated to affect less than 1 per 1,000,000 people. DHSt is caused by increased cation efflux and dehydration in red blood cells, which leads to decreased flexibility making them more vulnerable to lysis. Compared with G6PD, DHSt has a mild presentation, where most patients (84%) with isolated DHSt exhibit chronic hemolysis. Both diseases, G6PD deficiency and DHSt, are inherited hemolytic anemias and to the best of our knowledge have never been reported to coexist in the same patient. Herein, we present the first case of concurrent G6PD deficiency and DHS in a 4-month-old male. We discuss the clinical presentation and hematopathology findings from this patient as well as provide a comparison literature review. We believe this presentation will add to the current body of knowledge for these conditions and help to guide future investigation and management.

AbstractBackgroundBlood involvement by mycosis fungoides (MF)/Sézary syndrome (SS) influences prognosis and therapeutic decisions. MF/SS blood stage is currently determined by absolute CD4 + CD26− or CD4 + CD7‐cell counts, which quantification method may overestimate MF/SS by including CD26− or CD7− normal CD4+ T‐cells, or underestimate disease burden when MF/SS cells show incomplete loss of CD26 and/or CD7. Recently, through the standardization effort led by the International Clinical Cytometry Society (ICCS), recommendation was made to quantify MF/SS by enumerating immunophenotypically aberrant CD4+ T‐cells, rather than CD26− or CD7− in isolation.MethodsWe compared these two quantitation methods in 309 MF/SS patients who had blood samples analyzed by flow cytometry immunophenotyping (FCI) over a 1‐year period.ResultsUsing the European Organization of Research and Treatment of Cancer (EORTC)/International Society for Cutaneous Lymphomas (ISCL) criteria, 221 (71.5%) patients had a blood stage corresponding to B0, 57 (18.4%) to B1, and 31 (10%) to B2. By FCI analysis, a total of 62 patients (20.0%) were found positive for MF/SS. Among EORTC B0 patients, 11/221 (5%) were positive by FCI (false negatives), and among EORTC Stage B1 patients, 35/57 (61%) were negative by FCI (false positives). Regarding patients positive for MF/SS cells by FCI, there was an overall excellent correlation (r = .999, p < .001) between the EORTC/ISCL method and FCI method; however, four (6.5%) patients would have an altered B stage between B0 and B1.ConclusionThe MF/SS cell quantification method using immunophenotypic aberrancies, as recommended by the ICCS, allows to distinguish MF/SS cells from background benign T‐cells and enables for more accurate staging, especially among patients currently being considered to have B0 and B1 stage diseases.