Neonatal Anemia Research Articles

Regional Tissue Oxygen Extraction and Severity of Anemia in Very Low Birth Weight Neonates: A Pilot NIRS Analysis.

Anemia causes blood flow redistribution and altered tissue metabolic behavior to sustain homeostatic oxygen consumption. We hypothesized that anemia severity would correlate with increased regional fractional tissue oxygen extraction among premature neonates. Regional oxygen extraction was calculated using pulse oximetry and near-infrared spectroscopy data among neonates <1,250 g during their first 10 postnatal days. Oxygen extraction was assessed for correlations with raw hematocrit levels and following grouping into hematocrit quartiles. Twenty-seven neonates with gestational age 27 ± 2 weeks and birth weight 966 ± 181 g underwent 116 hematocrit determinations. Cerebral and flank oxygen extraction inversely correlated with hematocrit (cerebral r = -0.527, p = 0.005; flank r = -0.485, p = 0.01). Increased cerebral oxygen extraction was observed for the lowest three hematocrit quartiles (Q1 0.26 ± 0.08, p = 0.004; Q2 0.24 ± 0.09, p = 0.01; Q3 0.25 ± 0.09, p = 0.03; all compared with Q4 0.18 ± 0.10). Increased flank oxygen extraction occurred for the lowest two quartiles (Q1 0.36 ± 0.12, p < 0.001; Q2 0.35 ± 0.11, p < 0.001; compared with Q4 0.22 ± 0.13). Splanchnic oxygen extraction demonstrated no similar correlations. Increases in tissue oxygen extraction may indicate early pathophysiologic responses to nascent anemia in premature neonates.

Recent advances in transfusions in neonates/infants.

Transfusions of red blood cells (RBCs), platelets, and plasma are critical therapies for infants and neonates (particularly preterm neonates) in the neonatal intensive care unit, who are the most frequently transfused subpopulation across all ages. Although traditionally a significant gap has existed between the blood utilization and the evidence base essential to adequately guide transfusion practices in infants and neonates, pediatric transfusion medicine is evolving from infancy and gradually coming of age. It is entering an exciting era with recognition as an independent discipline, a new and evolving high-quality evidence base for transfusion practices, novel technologies and therapeutics, and national/international collaborative research, educational, and clinical efforts. Triggers and thresholds for red cell transfusion are accumulating evidence with current phase III clinical trials. Ongoing trials and studies of platelet and plasma transfusions in neonates are anticipated to provide high-quality evidence in years to come. This article aims to summarize the most current evidence-based practices regarding blood component therapy in neonates. Data on the use of specific components (RBCs, plasma, and platelets) are provided. We attempt to define thresholds for anemia, thrombocytopenia, and abnormal coagulation profile in neonates to highlight the difficulties in having a specific cutoff value in neonates and preterm infants. Indications for transfusion of specific products, transfusion thresholds, and current practices and guidelines are provided, and possible adverse outcomes and complications are discussed. Finally, the critical research knowledge gaps in these practices as well as ongoing and future research areas are discussed. In an era of personalized medicine, neonatal transfusion decisions guided by a strong evidence base must be the overarching goal, and this underlies all of the strategic initiatives in pediatric and neonatal transfusion research highlighted in this article.

Adverse effects in children exposed to maternal HIV and antiretroviral therapy during pregnancy in Brazil: a cohort study

BackgroundAntiretroviral therapy (ART) in pregnancy was associated with a drastic reduction in HIV mother-to-child transmission (MTCT), although it was associated with neonatal adverse effects. The aim of this study was to evaluate the neonatal effects to maternal ART.MethodsThis study was a cohort of newborns from HIV pregnant women followed at the CAISM/UNICAMP Obstetric Clinic from 2000 to 2015. The following adverse effects were evaluated: anemia, thrombocytopenia, liver function tests abnormalities, preterm birth, low birth weight and congenital malformation. Data collected from patients’ files was added to a specific database. Descriptive analysis was shown in terms of absolute (n) and relative (%) frequencies and mean, median and standard deviation calculations. The association between variables was tested through Chi-square or Fisher exact test (n < 5) and relative risk (RR) with its respective p values for the categorical ones and t-Student (parametric data) or Mann-Whitney (non-parametric data) for the quantitative ones. The significant level used was 0.05. A multivariate Cox Logistic Regression was done. Statistical analysis was performed using SAS version 9.4.ResultsData from 787 newborns was analyzed. MTCT rate was 2.3%, with 0.8% in the last 5 years. Observed neonatal adverse effects were: liver function tests abnormalities (36%), anemia (25.7%), low birth weight (22.5%), preterm birth (21.7%), children small for gestational age (SGA) (18%), birth defects (10%) and thrombocytopenia (3.6%). In the multivariate analysis, peripartum CD4 higher than 200 cells/mm3 was protective for low birth weight and preterm birth, and C-section was associated with low birth weight, but not with preterm birth. Neonatal anemia was associated with preterm birth and exposure to maternal AZT. Liver function tests abnormalities were associated with detectable peripartum maternal viral load and exposure to nevirapine. No association was found between different ART regimens or timing of exposure with preterm birth, low birth weight or congenital malformation.ConclusionHighly active antiretroviral treatment in pregnant women and viral load control were the main factors associated with MTCT reduction. Antiretroviral use is associated with a high frequency but mainly low severity adverse effects in newborns.

Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder that may manifest as neonatal jaundice or acute hemolytic anemia. Quantitative assessment of G6PD activity in erythrocytes is required to definitively diagnose a deficiency. Most males and homozygous females have low enzyme activities, whereas heterozygous females may have a range of activities. We sought to examine G6PD genotype-phenotype associations to identify an activity cutoff above which G6PD deficiency is unlikely. Ninety-five residual samples were randomly selected to represent the various regions of a G6PD activity distribution. DNA was isolated from the leukocyte fraction and sequenced using the Sanger method. ROC curves were used to establish cutoffs. Thirteen variant alleles were identified, including 1 not previously reported. In the very deficient activity range, we found males and homozygous females of both class II and III variants. In the deficient category, we found predominantly class III males and heterozygous females. The presumed deficient category contained class III and IV variants and nonvariants. An activity cutoff of <7.85 U/g hemoglobin (Hb) was 100% sensitive and 94% specific for identifying a G6PD-deficient male, and a cutoff of <8.95 U/g Hb was 90% sensitive and 82% specific for a deficient female. The observed activity groupings were not because of a particular variant class. Cutoffs to identify the presence of a deficiency variant for males and females may be useful when trying to decide whether to recommend genetic analysis.

Diagnostic Strategies in Hemoglobinopathy Testing, the Role of a Reference Laboratory in the USA

Although commonly assessed in the context of microcytosis or sickling syndrome screening, hemoglobin mutations may not be as readily considered as a cause of other symptoms. These include macrocytosis with or without anemia, chronic or episodic hemolysis, neonatal anemia, erythrocytosis, cyanosis/hypoxia and methemoglobinemia/ sulfhemoglobinemia. Hemoglobin disorders commonly interfere with the reliability of Hb A1c measurement. Because the clinical presentation can be varied and the differential diagnosis broad, a systematic evaluation guided by signs and symptoms can be effective. A tertiary care reference laboratory is particularly challenged by the absence of pertinent clinical history and relevant laboratory findings, and appropriate use of resources in a data vacuum can be problematic. To address these issues, our laboratory has constructed testing panels with a tiered strategy utilizing screening assays that detect the most common causes and reflexing additional assays that assess less common etiologies. See Figure 1. Our testing algorithm panels include a rapid hemoglobin fraction monitoring test, a generic diagnostic hemoglobin electrophoresis profile, and more specific diagnostic evaluations for microcytic anemia, hereditary hemolytic anemia, methemoglobinemia and sufhemoglobinemia and erythrocytosis. Use of these testing strategies has facilitated the identification of rare and complex hemoglobin disorders from a wide variety of ethnic groups, including over 500 distinct named alpha, beta and gamma variants (of which 60+ were novel variants at the time of first detection), 99 beta thalassemia mutations and greater than 20 large deletional beta globin cluster deletion subtypes.

Correlation between maternal and umbilical cord blood in pregnant women of Pokhara Valley: a cross sectional study

BackgroundComplete blood count is one of the routinely advised blood investigation during pregnancy. It is also utilized as a diagnostic tool for neonatal anemia, sepsis and determining hemostatic status of the newborn. The present study aims at estimating the complete blood count of maternal and umbilical cord blood at the time of delivery and to establish its correlation.MethodThis cross sectional study included 114 mothers and their healthy neonates born through normal vaginal delivery. Complete blood count of umbilical cord blood and maternal blood was estimated using automatic hematology analyzer.ResultsThe mean maternal and neonatal hemoglobin concentration was 11.14 ± 1.39 g/dL and 16.34 ± 2.01 g/dL respectively. A significant positive correlation was found between maternal and fetal hemoglobin concentration (p < 0.001 and Pearson R = 0.496). The correlation between maternal and fetal WBC, RBC and Platelet count was not statistically significant. A significant positive correlation was found between maternal and fetal MCV and MCH while PCV showed a non-significant positive correlation.ConclusionThere was moderately positive correlation between maternal and fetal hemoglobin, MCV and MCH. The cord blood hemoglobin was lower in babies born to anemic mothers. The decrease in hemoglobin followed the severity of anemia, however, the correlation did not exist in anemic mothers. It suggested that fetal hematological parameters are not reflective of maternal hemogram.

Neonatal anemia and transfusion

Anemia of neonate, especially in premature infants, is a common phenomenon in newborns and has attracted more and more attention in the academic world.There are various reasons for anemia.Besides the common pathophysiological basis such as iron deficiency and erythropoietin deficiency, blood group incompatibility, hemolysis and iatrogenic blood loss are also important factors leading to anemia of neonates.Preventive measures for neonatal anemia include delayed ligation of the umbilical cord, the application of erythropoietin and the effective reduction of iatrogenic blood loss.At present, blood transfusion is still one of the main treatments for neonatal anemia.However, there are still controversies about transfusion indications as well as it′s short-term and long-term side effects. Key words: Infant, newborn; Anemia; Transfusion

Effect of enteral bovine lactoferrin on neonatal iron status

Background All infants experience a decrease in hemoglobin (Hb) soon after birth, which results in varying degrees of anemia. Oral bovine lactoferrin (LF) supplementation, an iron-binding glycoprotein, is a promising therapy for iron-deficiency anemia. Objectives To evaluate the effect of enteral LF supplementation on the levels of Hb, hematocrit, and serum ferritin in infants admitted in the neonatal intensive care units. This was an interventional double-blind trial conducted on 52 neonates who were randomized into LF group (n=26) and placebo group (n=26). LF was administered at a dose of 100 mg/day once by enteral route starting from birth to 30th day of life. Complete blood count and serum ferritin were assessed in patients at 7th and 30th day of life. Results There were no significant differences between both the studied groups as regards serum ferritin, Hb, hematocrit, mean corpuscular volume, red cell distribution width, platelet count, and total leukocytic count on day 7. There were statistically significant higher serum ferritin, Hb, hematocrit, and mean corpuscular volume, and lower red cell distribution width and total leukocytic count in the LF group than the placebo group on day 30. The placebo group had significantly higher mortality than LF group (19.2% vs. zero; P=0.051). Conclusion Bovine LF is an effective and safe therapy to prevent anemia in neonates.

Body Growth and Rapid Hematological Development Support Breath Hold of Baby Belugas (Delphinapterus leucas) during Subice Transit.

Body size and oxygen stores in the blood and muscle set breath-hold limits in marine mammals, yet these characteristics are understudied in immature cetaceans. We examined body mass and hematology from birth through adulthood in beluga whales (Delphinapterus leucas). At birth, body mass was 8% and 6% of the maximum mass recorded for adult females and males, respectively. Body mass then increased rapidly, approaching an asymptote around 12 yr for females and 18 yr for males. Interestingly, red blood cell counts, hemoglobin content, and hematocrit levels decreased after birth; this neonatal anemia was reversed as levels increased after 2 mo postpartum. Mature levels were obtained at approximately 8, 9, and 11 mo postpartum, respectively. Neonatal mean corpuscular hemoglobin also increased with ontogeny; mature levels were achieved by approximately 13 mo after birth. In contrast, mean corpuscular volume and mean corpuscular hemoglobin concentration demonstrated a significant but subtle increase throughout ontogeny. Our results indicate that postnatal maturation was required and that maturation occurred far earlier than the age at weaning (i.e., 2-3 yr postpartum). This is atypical of marine mammals, which generally achieve mature hemoglobin levels at weaning. Hematological maturation before maternal independence undoubtedly supports the prolonged breath holds of young belugas transiting under sea ice. This assessment enhances our knowledge of cetacean physiology and provides important inputs for determining age-specific dive capacity, yielding insights into age-specific flexibility to alter underwater behaviors, as will be required for future regime shifts and disturbances.

193: Prenatal diagnosis of vasa previa: Outpatient versus inpatient management

The optimal antenatal management and the timing of delivery in women with prenatal diagnosis of vasa previa have not been established. The aim of this study was to compare pregnancy outcome of two different management strategies (outpatient versus inpatient) and a policy of elective cesarean section at 36 weeks of gestation in pregnancies complicated with vasa previa This was a retrospective cohort study conducted at a single tertiary center. All women with a prenatally diagnosed vasa previa between 01/2007-05/2017 were included. Vasa previa was confirmed by serial ultrasound examinations and placental examination. Obstetric and neonatal outcomes were compared between two management strategies: elective admission at 34.0 weeks of gestation or outpatient management unless there were signs of labor or premature contractions. All women had a planned cesarean delivery at 36 weeks. 109 women met inclusion criteria: 75 (68.8%) women in the inpatient group and 34 (31.2%) in the outpatient group. Women in the inpatient group were admitted earlier (34.0 vs 35.3 weeks, respectively, P=0.002) and were more likely to be delivered earlier (36.0 vs 36.2 weeks, respectively, P=0.01) compared to outpatient group. Women in the inpatient group were more likely to receive antenatal steroids (57.3% vs 23.5%, respectively, P=0.002), but less likely to have an urgent cesarean section (18.9% vs 58.8%, respectively, P<0.001). However, the rate of cesarean before 36 weeks of gestation was similar between the two groups (34.7% vs 31.6%, respectively, P=0.8) and there was no significant difference in the rate of operative complications (18.9% vs 14.7%, respectively P=0.65) or post-partum complications (12.0% vs 26.5%, P= 0.09) between the groups. There was no difference in the rate of neonatal complications (inpatient: 68.9% vs outpatient: 57.5%, P=0.255) or neonatal anemia requiring transfusion (2.7% vs 5.8%, respectively, P=0.5) between the groups. There was one case of neonatal death due to severe intrauterine growth restriction. A policy of planned cesarean delivery at 36 weeks of gestation in cases with prenatally diagnosed vasa previa is safe, however, it is prudent to recommend elective inpatient hospitalization at 34 weeks of gestation as the rate of urgent cesarean section was higher in women managed as outpatients compared to those managed as inpatient.

Anemic Conditions Acceptable in Restrictive Transfusion Practice Induce Gut Inflammation and Injury in an Animal Model of Preterm Infants

Very low birth weight (VLBW) infants often require multiple transfusions within the first weeks of life. In an effort to minimize transfusion-associated risks, many neonatologists have opted for more restrictive neonatal transfusion practices. However, whether a restrictive transfusion strategy is effective in limiting transfusions without increasing morbidity and mortality in this population remains unclear. Recently, the increasing use of more restrictive neonatal transfusion practices has been associated with a concomitant increase in the incidence of necrotising enterocolitis (NEC) in VLBW infants. Retrospective studies and a meta-analysis of trials comparing restrictive vs. liberal transfusion strategies suggest a higher risk of NEC among preterm infants managed by restrictive transfusion approaches (pooled relative risk 1.6; 95% CI 0.8-3.1). A recent multicenter, prospective observational study evaluating time-varying exposure to anemia also reported a higher risk of NEC among infants with severe anemia compared to those without severe anemia (adjusted hazard ratio 6.0; 95% CI 2.0-18.0). Importantly, while previous studies suggest that transfusion itself may cause transfusion-associated gut injury (TRAGI), this study failed to find an association between transfusion and NEC, strongly suggesting that anemia itself may represent a key risk factor linking increased incidence of NEC to restrictive transfusion practices.To determine whether anemia may directly affect the development of NEC we employed a pre-clinical murine model that utilizes gradual phlebotomy-induced anemia (PIA). Pups were bled twice-daily (5mL/g) beginning at postnatal day 3 (P3) to achieve a hematocrit of 23-25% by P7. Anemic and littermate control pups were then examined for intestinal hypoxia, inflammation and gut barrier disruption at P8. Levels of intestinal hypoxia were evaluated by injection of hypoxyprobe (Hypoxyprobe, Inc.) into control and anemic pups, followed by sacrifice at 1 hour post-injection and detection of protein adducts of pimonidazole in hypoxic tissue by confocal analysis. Inflammation was assessed by evaluation of key immune populations, including macrophages, dendritic cells and T cells for number and function by flow cytrometry. Finally, gut barrier function was assessed by quantification of fluorescein isothiocyanate (FITC)-dextran (4kDa) in the serum 4 hours following oral gavage.While hypoxia within the gut is normally confined to the lumen, neonatal pups exhibited significant increases in gut hypoxia following PIA, which extended beyond the gut lumen to intestinal crypts where key immune populations reside. Comparative analysis of immune populations in the gut between control and anemic neonates indicated no impact of PIA on macrophage, dendritic cell or T cells numbers. However, gut resident macrophages in anemic mice produced significantly more IFNg compared to controls. In contrast, no changes in dendritic cell or T cell cytokine production were observed, strongly suggesting that gut resident macrophages may play a primary role in anemia-induced increases in intestinal inflammation. As inflammation can directly impact gut barrier function, we next investigated intestinal barrier permeability as a marker of gut injury that may precede NEC. When FITC-dextran was administered by oral gavage to anemic and control mice, followed by quantification in the blood 4 hours later, significantly higher blood levels of FITC-dextran could be detected in anemic recipients, demonstrating increased intestinal barrier permeability following PIA.While physiological hypoxia in healthy individuals is localized to epithelial cells adjacent to the lumen, our data demonstrate hypoxic staining throughout the mucosa in neonates following PIA. Additionally, PIA appears to increase macrophage pro-inflammatory cytokine secretion and also compromises gut barrier function, both key factors that can predispose neonates to NEC. Thus, data from this preclinical model suggest that restrictive transfusion guidelines which allow for hematocrits as low as ~24% prior to transfusion may increase morbidity and mortality associated with NEC in preterm infants. DisclosuresNo relevant conflicts of interest to declare.

Type I interferon-mediated autoinflammation due to DNase II deficiency

Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic acids as non-self and the induction of autoinflammation. By systematic screening using a panel of interferon-stimulated genes we identify two siblings and a singleton variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy and increased anti-DNA antibodies. In both families we identify biallelic mutations in DNASE2, associated with a loss of DNase II endonuclease activity. We record increased interferon alpha protein levels using digital ELISA, enhanced interferon signaling by RNA-Seq analysis and constitutive upregulation of phosphorylated STAT1 and STAT3 in patient lymphocytes and monocytes. A hematological disease transcriptomic signature and increased numbers of erythroblasts are recorded in patient peripheral blood, suggesting that interferon might have a particular effect on hematopoiesis. These data define a type I interferonopathy due to DNase II deficiency in humans.

Severe neonatal thrombocytopenia due to fetomaternal anti-A alloimmunization: A case report

Severe neonatal thrombocytopenia due to fetomaternal anti-A alloimmunization: A case report

Traumatisme et grossesse : le test de Kleihauer est-il vraiment utile ?

ObjectiveTo evaluate the pertinence of Kleihauer-Betke (KB) test, in case of abdominal trauma during pregnancy in forecast of fetal outcomes, according to trauma severity. MethodsA single-center retrospective study conducted between January 2014 and April 2016 in a maternity type III and a trauma center, which included the pregnant women admitted for abdominal trauma. The trauma's severity was assessed using the guidelines of the Society of Obstetricians and Gynaecologists of Canada. The impact of a positive KB test, defined as>0.1%, was analyzed. Adverse outcome was defined as one or more of the following complications: intrauterine fetal death, placental abruption, pre-term birth<37 weeks of gestation, and fetal or neonatal anemia. ResultsDuring the study period, 265 pregnancies involved into an abdominal trauma were included: 69% with a minor trauma and 31% with a severe trauma. Of all patients, 5.6% presented a positive KB test, among then 15.4% had an adverse outcome. There was no significant difference in the rate of adverse outcomes in the positive KB group and the KB negative group either in the overall population (P=0.16), in the minor trauma population (P=1) or in the major trauma population (P=0.14). The predictive positive values were respectively in the global population, in the minor trauma group and in the severe trauma group 15.4%, 0% and 25%. ConclusionsThe KB test does not seem to be useful in case of trauma during pregnancy to define adverse outcome.

Neonatal hemolytic anemia does not always indicate thalassemia: a case report

BackgroundCongenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly.Case presentationHere, we present a case of a 5-year-old male child of Middle Eastern origin who had been diagnosed as having alpha thalassemia and was undergoing chronic blood transfusions. He later presented with hypopigmented skin lesions and atrophy post-photosensitivity, persistent red-colored urine and hepatosplenomegaly. Laboratory investigations showed a high level of porphyrin metabolites in his plasma and erythrocytes. As a result, he was diagnosed as having Congenital erythropoietic porphyria.ConclusionHere, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22 months after being exposed to sunlight). After a DNA test was performed, the patient was initially diagnosed as having alpha thalassemia. We identified two causes of hemolytic anemia (congenital erythropoietic porphyria and alpha thalassemia) in this patient. The diagnosis of congenital erythropoietic porphyria was missed up until the child turned 5 years old. To our knowledge, this is the first case of hemolytic anemia to be reported with a diagnosis of both congenital erythropoietic porphyria and alpha thalassemia.

EP16.03: The role of middle cerebral artery Doppler in the detection of fetal anemia in pregnancy with decreased perception of fetal movements

To analyse the role of middle cerebral artery (MCA) peak systolic velocity (PSV) in the prediction of severe fetal anemia in pregnancies with decreased perception of fetal movements and to compare it with standard cardiotocographic and biophysical assessment. This a prospective interventional study including all women with a viable singleton pregnancy who complain of reduced perception of fetal movements. Women participating were evaluated as per routine care with fetal biophysical profile assessment and these results were reported as usual. Additionally the middle cerebral artery peack sistolic velocity and the cerebroplacental ratio were assessed and the results were noted. Cytofluorimetric test for fetomaternal hemorrhage was performed if this condition was suspected. Overall we recruited 74 women who complain of decreased perception of fetal movements. Gestational age at admission was 34 ± 4 weeks and only two of these fetuses were small for gestational age (2.7 %). The cardiotocogram was non reactive in 4 cases (5.4%). Among these pregnancies the cerebral Doppler was abnormal only in one case (1.7%) and the cardiotocogram was reassuring for this patient. After an emergency Caesarean section performed at 31 weeks because of the suspected fetal anemia (peak systolic velocity < 1.4 MoM) a very anemic neonate was born. The most accurate predictor of fetal anemia was fetal MCA-PSV. CTG was sometimes abnormal but the pattern was frequently nonspecific and it was normal in the anemic fetus. We suggest to include fetal cerebral Doppler in the evaluation of patients with decreased fetal movements, particularly in those cases with ambiguous results of biophysical testing.

The management of neonatal transfusion therapy: brief introduction of evidence-based recommendations of neonatal transfusion therapy in Italy

Blood transfusion therapy is one of the commonly used intervention in newborn infants.Red blood cell transfusion is the only treatment for most cases of neonatal anemia, but the indications of application and implementation strategy are not yet perfect, and the benefits, adverse outcomes and potential risk of transfusion remains to be evaluated.There are many uncertain problems in transfusion management.This paper mainly introduces the evidence-based recommendations of neonatal blood transfusion released by Italian Society of Transfusion Medicine and Immuno-haematology and Italian Society of Neonatology Working Group for reference of domestic clinicians. Key words: Infant, newborn; Blood transfusion; Management

Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia

Glutathione (gamma-glutamylcysteinylglycine) has diverse functions including free radicals scavenging and modulating many critical cellular processes. Glutathione is synthesized by the consecutive action of the enzymes glutamate-cysteine ligase (GCL) and glutathione synthetase. GCL is composed of a catalytic subunit encoded by the GCLC gene and a regulatory subunit encoded by the GCLM gene. GCL deficiency due to homozygous mutations in GCLC has been reported in 6 individuals from 4 independent families. All presented with hemolytic anemia and 4 had additional neurological manifestations including cognitive impairment, neuropathy, ataxia, and myopathy. In this report, we present additional 6 children from 2 independent consanguineous families with GCL deficiency. All the children presented with neonatal hemolytic anemia. Beyond the neonatal period, they did not have jaundice or hemolysis, but continued to have mild anemia. They all had normal development and neurological examination. The affected children from the first family had the homozygous mutation c.1772G>A (p.S591N) and the second family had the homozygous mutation c.514T>A (p.S172T) in GCLC. GCL deficiency can have a mild non-neurological phenotype or a more severe phenotype with neurological manifestations. GCL deficiency can be an underdiagnosed cause of hemolytic anemia, thus awareness may aid in early diagnosis, appropriate genetic counseling, and management.

Inappropriate Blood Transfusion in Neonatal Hemolytic Anemia Due to Anti-c

For transfusion in premature infants and newborns red blood cell (RBC) units of blood group 0, D–, and haplotype ccddee are often falsely regarded as universal compatible since they are suitable for all AB0 constellations between mother and child. In case of maternal diaplacental immunization with antibodies directed against RBC surface antigen Rhc (rare) or Rhe (very rare) these concentrates should be retained due to the risk of hemolytic disease. We report a case of immune mediated hemolytic anemia of a newborn due to antic and antiE where this restriction was not considered.

Severe neonatal anemia due to acute massive fetomaternal hemorrhage - a case and literature review

Severe neonatal anemia due to acute massive fetomaternal hemorrhage - a case and literature review