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EJHaem Feb 2022Medical management of iron deficiency (ID) requires to consider its consequences in biochemical and physiological plural functions, beyond heme/hemoglobin disrupted... (Review)
Review
Medical management of iron deficiency (ID) requires to consider its consequences in biochemical and physiological plural functions, beyond heme/hemoglobin disrupted synthesis. Fatigue, muscle weakness, reduced exercise capacity, changes in thymia and modified emotional behaviors are the commonest symptoms integrated in the history of ID, dependent or not of the hemoglobin concentration. The relationship between depression and absolute ID (AID) is a condition which is often unrecognized. Neuro-bioavailability and brain capture of blood iron are necessary for an appropriate synthesis of neurotransmitters (serotonin, dopamine, noradrenaline). These neurotransmitters, involved in emotional behaviors, depend on neuron aromatic hydoxylases functioning with iron as essential cofactor. Noradrenaline also has impact on neuroplasticity via brain-derived neurotrophic factor (BDNF), which is key for prefrontal and hippocampus neurons playing a role in depression. Establishing the formal relationship between depression and AID remains difficult. Intracerebral reduced iron is still hard to quantify by neuroimaging and single-photon emission computed tomography (SPECT) now tends to explore the neurotransmission pathways. AID has to be looked for and identified in the context of depression, major episode or resistant to conventional treatment such as serotonin reuptake inhibitor, and even in the absence of anemia, microcytosis or hypochromia (non-anemic ID). Confronted to brain imaging, blood iron status evaluation is indicated, especially in depressed, treatment-resistant, iron-deficient young women. In patients suffering from depression, increase in the prevalence of AID should be considered, in order to deliver a suitable treatment, considering both anti-depressive program and iron supplementation if AID.
PubMed: 35846210
DOI: 10.1002/jha2.321 -
Nutrients Nov 2019In athletes, no reliable indices exist for an unambiguous evaluation of hematological and iron status. Therefore, the utility of some new red blood cell (RBC) parameters...
In athletes, no reliable indices exist for an unambiguous evaluation of hematological and iron status. Therefore, the utility of some new red blood cell (RBC) parameters was explored in 931 elite male athletes aged 13-35 years. To diagnose iron status, the values of ferritin and soluble transferrin receptor (sTfR), total iron binding capacity (TIBC), and basic blood morphology were determined in blood. The new hematological markers included among others: mean cellular hemoglobin content in reticulocytes (CHr), percentage of erythrocytes (HYPOm) and reticulocytes (HYPOr) with decreased cellular hemoglobin concentration, percentage of erythrocytes (LowCHm) and reticulocytes (LowCHr) with decreased cellular hemoglobin content, mean volume of reticulocytes (MCVr), and percentage of erythrocytes with decreased volume (MICROm). Despite adverse changes in reticulocyte hypochromia indices (CHr, LowCHr, HYPOr; < 0.001) in the iron depletion state, the area under the receiver operating characteristic curve (AUC-ROC) values calculated for them were relatively low (0.539-0.722). In iron-deficient erythropoiesis (IDE), unfavorable changes additionally concern microcythemia indices in both reticulocytes and erythrocytes (MCVr, MCV, MICROm, and red cell volume distribution width-RDW), with especially high values of AUC-ROC (0.947-0.970) for LowCHm, LowCHr, and CHr. Dilutional sports anemia was observed in 6.1% of athletes. In this subgroup, only hemoglobin concentration (Hb), hematocrit (Hct), and RBC (all dependent on blood volume) were significantly lower than in the normal group. In conclusion, the diagnostic utility of the new hematology indices was not satisfactory for the detection of an iron depletion state in athletes. However, these new indices present high accuracy in the detection of IDE and sports anemia conditions.
Topics: Adolescent; Adult; Anemia; Anemia, Iron-Deficiency; Area Under Curve; Athletes; Athletic Performance; Biomarkers; Cardiorespiratory Fitness; Erythrocyte Indices; Erythrocytes; Erythropoiesis; Ferritins; Hematocrit; Hematology; Hemoglobins; Humans; Iron; Male; Nutritional Status; ROC Curve; Receptors, Transferrin; Reticulocytes; Sports Medicine; Young Adult
PubMed: 31739525
DOI: 10.3390/nu11112767 -
Genetics and Molecular Biology 2021Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin...
Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. The presence of α-thalassemia mutations was investigated by gap-PCR, restriction endonucleases analysis and HBA2 and HBA1 genes sequencing, whereas the alpha-MRE haplotypes were investigated by sequencing. We found 55 individuals (32.7%) with α-thalassemia mutations, 51(30.4%) carrying the -α3.7 deletion, one with the -α4.2 deletion and three having the rare punctual mutation HBA2:c.-59C>T. Regarding alpha-MRE analysis, we observed a significant higher frequency of haplotype D, characteristic of African populations, in the sample with the -α3.7 deletion. These results show that α-thalassemia mutations are an important determinant of microcytosis and hypochromia in Uruguayan patients with microcytosis and hypochromia without anemia, mainly due to the -α3.7 deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay.
PubMed: 33769430
DOI: 10.1590/1678-4685-GMB-2020-0399 -
Journal of Environmental and Public... 2021This exploratory, descriptive cohort study ( = 60) determined lead (Pb) and arsenic (As) blood concentrations in Peruvian children and their association with...
This exploratory, descriptive cohort study ( = 60) determined lead (Pb) and arsenic (As) blood concentrations in Peruvian children and their association with hematological parameters of iron-deficient anemia (IDA) and anthropometric measurement. The mean age of children was 10.8 months (SD = 4.7) and ranged from 3 to 24 months old. Anemia (Hb levels below 10.5 g/dL) was found in 20% of this cohort. Additionally, microcytosis (MCV < 70 fL) was present in 54%, and hypochromia (MCH < 23 pg) in 42% of the group of children. Chi-square analysis showed that 88% of the children with anemia also had microcytosis and hypochromia ( < 0.001). Pb and As were detected in 100% of the infants' blood samples, and the concentrations were significantly higher in older infants than in younger ones. Pb and As were not associated with the sex, anthropomorphic parameters, or infant hemogram changes. Infants who received iron supplementation were 87% less likely to have low Hb compared with those who did not (OR = 0.13, 95% CI = 0.02-0.88, =0.04). Herbal tea intake was significantly associated with microcytosis and hypochromia. Our finding uncovered that hematological parameters for anemia are modified in Peruvian children with high levels of microcytosis and hypochromia. Concentrations of Pb and As were above method detection limits in all Peruvian children, but these were not associated with IDA or anthropometric measurements. A large study, including other variables, would benefit from allowing a more complex model predicting anemia in Peruvian children.
Topics: Anemia, Iron-Deficiency; Arsenic; Child, Preschool; Cohort Studies; Female; Humans; Infant; Lead; Male; Peru
PubMed: 34335794
DOI: 10.1155/2021/7283514 -
BMC Research Notes Feb 2020Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin...
OBJECTIVE
Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations.
RESULTS
Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23 ± 0.78 × 10/L in adult males and 7.21 ± 0.67 × 10/L in adult females while in children were 5.07 ± 0.87 × 10/L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn't revealed statistically significant decrease in adult males (11.7 ± 0.57 g/dL) and adult females (11.25 ± 0.64 g/dL), while in children were (11.6 ± 2.95 g/dL). Haemoglobin electrophoresis revealed two patients of the 3.7 and 4.2 negative were carriers for β-thalassemia. The study concluded that α deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis.
Topics: Adolescent; Adult; Anemia, Hypochromic; Child; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 4; Female; Genetic Testing; Humans; Male; Middle Aged; Prevalence; Sequence Deletion; Sudan; Young Adult; alpha-Thalassemia
PubMed: 32041645
DOI: 10.1186/s13104-020-4933-5 -
Acta Medica Portuguesa Jul 2023Microcytosis and hypochromia result from deficient hemoglobin synthesis in red blood cells and are easily detected in a complete blood count test. These conditions are...
INTRODUCTION
Microcytosis and hypochromia result from deficient hemoglobin synthesis in red blood cells and are easily detected in a complete blood count test. These conditions are mainly due to iron nutritional deficiency, but may also result from some genetic diseases, such as thalassemia. The aim of this study was to determine the contribution of β- and α-thalassemia to these abnormal hematological phenotypes in a representative sample of adult individuals living in Portugal who participated in the first Portuguese National Health Examination Survey (INSEF).
MATERIAL AND METHODS
Among the 4808 INSEF participants, 204 had microcytosis, hypochromia or both. The corresponding 204 DNAs were screened for changes in the β-globin gene by next-generation sequencing and Sanger sequencing. In addition, α-thalassemia deletions within the α-globin cluster were investigated by Gap-PCR and multiplex ligation-dependent probe amplification.
RESULTS
In this selected subgroup of INSEF participants, 54 had α-thalassemia (26%), predominantly caused by the -α3.7kb deletion, and 22 were β-thalassemia carriers (11%) mainly due to point mutations in the β-globin gene previously known in Portugal.
CONCLUSION
Thalassemia trait is a frequent cause of microcytosis or hypochromia in Portugal since this genetic condition was found in 37% of the investigated cases.
Topics: Humans; alpha-Thalassemia; Portugal; Prevalence; beta-Thalassemia; beta-Globins
PubMed: 36898140
DOI: 10.20344/amp.19162 -
Frontiers in Endocrinology 2022We aimed to evaluate the effects of maternal diabetes on neonatal iron status, measuring erythrocyte indices including hemoglobin, hematocrit, reticulocytes, mean...
AIMS
We aimed to evaluate the effects of maternal diabetes on neonatal iron status, measuring erythrocyte indices including hemoglobin, hematocrit, reticulocytes, mean corpuscular volume (MCV), percent (%) hypochromia, ferritin, and additionally mean reticulocyte hemoglobin content (MCHr) as an early marker of iron deficiency, and examine the association between neonatal MCHr, red cell indices, and ferritin.
MATERIALS AND METHODS
We conducted a hospital-based prospective cohort study in a tertiary neonatal unit of a University Hospital from 2018 to 2020. We enrolled 126 maternal-infant pairs of mothers whose pregnancy was associated with diabetes and 74 maternal-infant pairs from uncomplicated pregnancies. Erythrocyte indices were analyzed within the first twelve hours after birth. Erythrocyte parameters were compared between infants of the diabetes and the non-diabetic group. We examined the correlation of the neonatal MCHr with perinatal characteristics, including gestation, birth weight, maternal body mass index, the erythrocytic indices, maternal diabetes, maternal obesity, prematurity, small-for-gestational-age status, maternal preeclampsia, and maternal anemia. Finally, we evaluated the discordance between neonatal MCHr and neonatal ferritin.
RESULTS
Infants of the diabetes group had a significantly lower MCHr (32.6 pg vs. 34.2 pg, p=0.003) compared with infants of uncomplicated pregnancies. Neonatal MCHr was significantly correlated with maternal hypochromia (r=-0.237, p=0.004) and neonatal MCV (r=0.674, p<0.001). Neonatal MCHr was significantly associated with maternal diabetes [standardized coefficients 0.21, 95% confidence interval (CI) 0.05-0.58, p=0.003) and maternal preeclampsia (standardized coefficients 0.17, 95% CI 0.02-0.92, p=0.019), after adjusting for maternal anemia, maternal obesity, prematurity, and small-for-gestational-age status. Those results were consistent also when analyzing maternal-infant pairs with pre-existing diabetes, and maternal-infant pairs with gestational diabetes. There was significant discordance between neonatal MCHr and neonatal ferritin (p=0.001).
CONCLUSIONS
MCHr was significantly lower in infants of mothers whose pregnancy was associated with diabetes compared with infants of non-diabetic mothers and correlated with neonatal and maternal red cell indices of iron deficiency. Since there was significant discordance between neonatal MCHr and ferritin during the first postnatal day, it is possible that MCHr could be used as a screening test for iron deficiency, especially in infants.
Topics: Pregnancy; Infant; Infant, Newborn; Female; Humans; Reticulocytes; Diabetes, Gestational; Iron; Obesity, Maternal; Pre-Eclampsia; Prospective Studies; Hemoglobins; Ferritins; Biomarkers; Iron Deficiencies
PubMed: 36425471
DOI: 10.3389/fendo.2022.1011897 -
Viruses Sep 2022Feline immunodeficiency virus (FIV) infection in experimentally infected domestic cats produces characteristic clinical manifestations including hematological changes,...
Feline immunodeficiency virus (FIV) infection in experimentally infected domestic cats produces characteristic clinical manifestations including hematological changes, neurological disease, neoplasia (most notably lymphoma) and lymphopenia-mediated immunodeficiency predisposing cats to a range of secondary infections. Conflicting reports exist, however, with regard to disease associations and survival time in naturally FIV-infected cats. The purpose of this retrospective case−control study was to investigate the effect of natural FIV infection on hematological, blood biochemical and urinalysis parameters and survival time in three cohorts of pet cats in Australia. Cohorts 1 and 2 were recruited from a large veterinary hospital in Melbourne, Victoria (n = 525 and 282), while a third cohort consisted of cats recruited from around Australia as part of a FIV field vaccine efficacy trial (n = 425). FIV-infected cats in cohorts 1, 2 and 3 were found to have 15/37 (41%), 13/39 (33%) and 2/13 (15%) clinicopathological parameters significantly different to FIV-uninfected cats, respectively. Two changes in FIV-infected cats in cohort 1, hypochromia (low hemoglobin) and hyperglobulinemia, were outside the supplied reference intervals and should serve as diagnostic triggers for FIV testing. Kaplan−Meier survival analysis of cats in cohorts 1 and 2 combined did not find any difference between FIV-infected and FIV-uninfected cats, however a confounding factor was a large euthanasia rate within the first 12 months in both groups. Three significant (p < 0.05) spatial clusters of FIV infection were identified in Melbourne. A possible relationship between FIV infection status and socioeconomic disadvantage was discovered, based on three government indices of socioeconomic status (p < 0.001). Until longitudinal field studies are performed in Australia to further investigate the long-term effects of natural FIV infection, Australian veterinarians should consider FIV to be an important infection of pet cats, and recommend measures to prevent FIV infection.
Topics: Animals; Cats; Case-Control Studies; Feline Acquired Immunodeficiency Syndrome; Hemoglobins; Immunodeficiency Virus, Feline; Lentivirus Infections; Retrospective Studies; Victoria
PubMed: 36298731
DOI: 10.3390/v14102177 -
BMJ Case Reports Mar 2021Haemophagocytic lymphohistiocytosis (HLH) is a rare diagnosis that carries a high degree of mortality. We present this case of a previously healthy 22-year-old woman,...
Haemophagocytic lymphohistiocytosis (HLH) is a rare diagnosis that carries a high degree of mortality. We present this case of a previously healthy 22-year-old woman, who was admitted acutely ill to the hospital. One week prior, she had been seen by her primary care physician for fatigue and malaise. At that time, she was noted to have anterior and posterior cervical lymphadenopathy. She was referred to the emergency room and was diagnosed with acute Epstein-Barr virus (EBV) mononucleosis based on her clinical symptoms and positive heterophile antibody test. She was discharged after an uneventful 48-hour stay on the wards. She represented 7 days after discharge with cough, fatigue, nausea, vomiting, epigastric abdominal pain, diarrhoea, weight loss and subjective fevers. She had also reported haematemesis, epistaxis and melaena. Vital signs included temperature 36.9°C, blood pressure 90/50 mm Hg, heart rate 130 beats per minute and respiratory rate 32 breaths per minute. Physical examination was notable for an acutely ill appearing woman with scleral icterus, hepatosplenomegaly and palpable cervical and axillary lymphadenopathy. Complete blood count showed pancytopaenia with haemoglobin 59 g/L (normal 120-160 g/L), white blood cell count 2.7×10/L (normal 4-10.5×10/L) and platelet count 50×10/L (normal 150-450×10/L). The white blood cell count differential included 58% neutrophils (normal 38%-77%) with immature neutrophils in band form elevated at 45% (normal <14%), 16% lymphocytes (normal 20%-48%), 7% monocytes (normal <12%) and no eosinophils (normal <6%). Blood smear revealed anisocytosis, poikilocytosis and hypochromia. Coagulation panel showed elevated levels of d-dimer level at 1.39 µg/mL (normal <0.45 µg/mL), prolonged prothrombin time at 34.4 s (normal 11-15 s), prolonged activated partial thromboplastin time of 55.6 s (normal 25-34 s), prolonged international normalised ratio at 3.31 (normal <1.1) and low fibrinogen 60 mg/dL (normal >200 mg/dL). Lipid panel showed cholesterol at 114 mg/dL (normal 125-200 mg/dL), triglycerides 207 mg/dL (normal 30-150 mg/dL), high-density lipoprotein cholesterol 10 mg/dL (normal 40-60 mg/dL) and low-density lipoprotein cholesterol 63 mg/dL (normal <100 mg/dL). Other lab abnormalities included elevated ferritin of 6513 ng/mL (normal 10-150 ng/mL) and elevated lactate dehydrogenase of 1071 unit/L (normal 95-240 unit/L). Soluble interleukin-2 receptor alpha level was elevated at 60 727 units/mL (normal 223-710 units/mL). Fluorodeoxyglucose-positron emission tomography (FDG-PET) scan showed abnormal tracer localisation within the paratracheal, hilar, pelvic, abdominal and subcarinal lymph nodes, along with FDG-PET positive hepatosplenomegaly. A bone marrow biopsy showed hypercellular marrow (95% cellularity) with trilineage haematopoiesis, haemophagocytic cells, polytypic plasmacytosis and T-cell lymphocytosis, along with positive latent membrane protein-1 immunohistochemical staining for EBV. EBV quantitative DNA PCR showed >1 million copies. These findings were consistent with a diagnosis of HLH secondary to EBV infection. Despite intense therapy with the HLH-94 protocol, the patient expired from her illness after a prolonged hospital course.
Topics: Adult; Epstein-Barr Virus Infections; Female; Herpesvirus 4, Human; Humans; Infectious Mononucleosis; Lymphohistiocytosis, Hemophagocytic; Pancytopenia; Young Adult
PubMed: 33789863
DOI: 10.1136/bcr-2020-241222