Anemia is a frequent complication in cancer patients, both at diagnosis and during treatment, with a multifactorial etiology in most cases. Iron deficiency is among the most common causes of anemia in this setting and can develop in nearly half of patients with solid tumors and hematologic malignancies. Surprisingly, this fact is usually neglected by the attending physician in a way that proper and prompt investigation of the iron status is either not performed or postponed. In cancer patients, functional iron deficiency is the predominant mechanism, in which iron availability is reduced due to disease or the therapy-related inflammatory process. Hence, serum ferritin is not reliable in detecting iron deficiency in this setting, whereas transferrin saturation seems more appropriate for this purpose. Besides, lack of bioavailable iron can be further worsened by the use of erythropoiesis stimulating agents that increase iron utilization in the bone marrow. Iron deficiency can cause anemia or worsen pre-existing anemia, leading to a decline in performance status and adherence to treatment, with possible implications in clinical outcome. Due to its frequency and importance, treatment of this condition is already recommended in many specialty guidelines and should be performed preferably with intravenous iron. The evidences regarding the efficacy of this treatment are solid, with response gain when combined with erythropoiesis stimulating agents and significant increments in hemoglobin as monotherapy. Among intravenous iron formulations, slow release preparations present more favorable pharmacological characteristics and efficacy in cancer patients.

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%). All variants affect the same CXCR4 region and impair CXCR4 internalization resulting in hyperactive signaling. The median age of diagnosis in our cohort (5.5 years) indicates WHIM syndrome can commonly present in childhood, although some patients are not diagnosed until adulthood. The prevalence and mean age of recognition and/or onset of clinical manifestations within our cohort were infections 88%/1.6 years, neutropenia 98%/3.8 years, lymphopenia 88%/5.0 years, and warts 40%/12.1 years. However, we report greater prevalence and variety of autoimmune complications of WHIM syndrome (21.2%) than reported previously. Patients with versus without family history of WHIM syndrome were diagnosed earlier (22%, average age 1.3 years versus 78%, average age 5 years, respectively). Patients with a family history of WHIM syndrome also received earlier treatment, experienced less hospitalization, and had less end-organ damage. This observation reinforces previous reports that early treatment for WHIM syndrome improves outcomes. Only one patient died; death was attributed to complications of hematopoietic stem cell transplantation. The variable expressivity of WHIM syndrome in pediatric patients delays their diagnosis and therapy. Early-onset bacterial infections with severe neutropenia and/or lymphopenia should prompt genetic testing for WHIM syndrome, even in the absence of warts.

Introduction Early diagnosis and identification of potential critical cases for timely treatment are crucial for COVID‐19 patients. The aim of this study was to analyze the diagnostic and prognostic implications of WBC and cell population data (CPD) abnormalities related to COVID‐19 at disease onset. Methods Baseline WBC counts and CPD data were analyzed in one hundred COVID‐19 patients presenting to emergency department and subsequently discharged (n = 49), admitted (n = 51) or deceased (n = 22), and in 47 healthy subjects. Results Lymphopenia and eosinopenia were observed in all COVID‐19 patients, with more intensity in the admitted and deceased groups, that also presented increased WBC and neutrophil counts. On CPD analysis, COVID‐19 was associated with increased volume of neutrophils, lymphocytes, and monocytes, whereas conductivity was decreased for neutrophils and increased for lymphocytes. The ROC curve analysis showed good performance for lymphocyte counts in predicting COVID‐19 diagnosis (AUC = 0.858), for neutrophil counts in predicting admission for COVID‐19 (AUC = 0.744) and for monocytes volume in predicting COVID‐19 diagnosis (AUC = 0.837). Conclusion WBC counts and CPD parameters at disease onset in COVID‐19 patients can improve diagnostic characterization and aid in the discrimination between severe and nonsevere presentations.

Patients with b-thalassemia trait have been reported to present lower plasma concentrations of low-density lipoprotein (LDL) and lower frequencies of acute myocardial infarction than normal subjects. In this study, the metabolism of LDL was tested in 12 patients with heterozygous b-thalassemia trait (HBT) and 13 healthy subjects without the disease by determining the plasma kinetics of an artificially made cholesterol-rich microemulsion (LDE) that mimics the LDL metabolism and binds to LDL receptors. The emulsion was labeled with 14 C-cholesterol ester and injected intravenously into the subjects. Blood samples were drawn at regular intervals over 24 hr to determine the plasma decay curve of the emulsion radioactive label and to estimate its plasma fractional clearance rate (FCR, in hr -1 ). FCR of the 14 C-cholesterol ester was greater in HBT compared to controls (0.0631¯± 0.0178 hr -1 and 0.0501¯± 0.0094 hr -1 , respectively; mean¯± SD, P = 0.022). No differences were found regarding LDL cholesterol plasma concentration between the two groups, but apolipoprotein B concentration was lower in HBT than in control subjects (80¯± 44 and 96¯± 14, respectively; mean¯± SD, P = 0.026). Our results show that LDE FCR is increased in HBT, indicating that LDL clearance is increased in patients with b-thalassemia trait possibly due to the increased proliferation in the bone marrow of erythroid precursors. Am.

Naoum FA Rev. bras. hematol. hemoter. 2005;27(3):223-226 Educacional/ Educational Alterações do perfil lipídico nas anemias Alterations of the lipid profile in anemia