Type Of Anemia Research Articles

Socio-economic and spatial inequalities in animal sources of iron-rich foods consumption among children 6-23 months old in Ethiopia: A decomposition analysis.

Iron deficiency anaemia is the most common type of anaemia in young children which can lead to long-term health consequences such as reduced immunity, impaired cognitive development, and school performance. As children experience rapid growth, they require a greater supply of iron from iron-rich foods to support their development. In addition to the low consumption of iron-rich foods in low- and lower-middle-income countries, there are also regional and socio-economic disparities. This study aimed to assess contributing factors of wealth-related inequality and geographic variations in animal sources of iron-rich food consumption among children aged 6-23 months in Ethiopia. We used data from the Ethiopian Mini Demographic and Health Surveys (EMDHS) 2019, a national survey conducted using stratified sampling techniques. A total of 1,461 children of age 6-23 months were included in the study. Iron-rich animal sources of food consumption were regarded when parents/caregivers reported that a child took at least one of the four food items identified as iron-rich food: 1) eggs, 2) meat (beef, lamb, goat, or chicken), 3) fresh or dried fish or shellfish, and 4) organs meat such as heart or liver. Concentration indices and curves were used to assess wealth-related inequalities. A Wagstaff decomposition analysis was applied to identify the contributing factors for wealth-related inequality of iron-rich animal source foods consumption. We estimated the elasticity of wealth-related inequality for a percentage change in socioeconomic variables. A spatial analysis was then used to map the significant cluster areas of iron-rich animal source food consumption among children in Ethiopia. The proportion of children who were given iron-rich animal-source foods in Ethiopia is 24.2% (95% CI: 22.1%, 26.5%), with figures ranging from 0.3% in Dire Dawa to 37.8% in the Oromia region. Children in poor households disproportionately consume less iron-rich animal-source foods than those in wealthy households, leading to a pro-rich wealth concentration index (C) = 0.25 (95% CI: 0.12, 0.37). The decomposition model explained approximately 70% of the estimated socio-economic inequality. About 21% of the wealth-related inequalities in iron-rich animal source food consumption in children can be explained by having primary or above education status of women. Mother's antenatal care (ANC) visits (14.6%), living in the large central and metropolitan regions (12%), household wealth index (10%), and being in the older age group (12-23 months) (2.4%) also contribute to the wealth-related inequalities. Regions such as Afar, Eastern parts of Amhara, and Somali were geographic clusters with low iron-rich animal source food consumption. There is a low level of iron-rich animal source food consumption among children, and it is disproportionately concentrated in the rich households (pro-rich distribution) in Ethiopia. Maternal educational status, having ANC visits, children being in the older age group (12-23 months), and living in large central and metropolitan regions were significant contributors to these wealth-related inequalities in iron-rich animal source foods consumption. Certain parts of Ethiopia such as, Afar, Eastern parts of Amhara, and Somali should be considered priority areas for nutritional interventions to increase children's iron-rich animal source foods consumption.

Prevalence and morphological characteristics of anemia in young children in Albaha, Saudi Arabia

Objective: To assess the anemia among children in Albaha and to recognize the morphological and hematological features of anemia in them. Methodology: This retrospective study was conducted in Albaha region, Saudi Arabia using the existing data since 2020. The study included data on children aged 0-69 months. Morphological criteria included high RDW, and low RBCs, Hgb, Hct, MCV, and MCHC. The data were analyzed by the SPSS, version 24. Descriptive and inferential statistics were applied including averages, independent t-tests, and univariate and bivariate binary logistic regression. Results: Average age of children was 46.4 months, representing both genders. The prevalence of anemia was 16.7%, 14.7%, and 14.1% for infants, toddlers, and preschoolers, respectively. The predominant type of anemia was microcytic hypochromic anemia, affecting 81.4% of males and 14.1% of females. There were insignificant correlations between age, or gender, with anemia status. Conclusion: Microcytic hypochromic anemia was the most prevalent type among young children in this study. It also emerges the necessity for further assessment to confirm the predominance of microcytic hypochromic anemia among young children in Saudi Arabia in regional contexts.

Gender-specific Association between Thyroid Stimulating Hormone and Haematological Indices in Hypothyroid Patients: A Cross-sectional Study

Introduction: Hypothyroidism has long been known to cause metabolic deceleration, including its effects on haematopoietic tissue, leading to anaemia. Anaemia and hypothyroidism can co-exist and present challenges for each other, resulting in a decline in quality of life. Aim: To address the gender-specific association of Thyroid Stimulating Hormone (TSH) with various haematological indices among a cohort of hypothyroid patients. Materials and Methods: A cross-sectional observational study was conducted at a tertiary care teaching hospital in Hyderabad, Telangana, India, from October 2022 to February 2023, after obtaining ethical clearance from the institutional ethics committee. A total of 347 newly diagnosed, biochemically proven hypothyroid patients attending the hospital were included in the study. The patients were divided into subclinical and overt hypothyroid groups based on their TSH values and thyroxine levels. All patients underwent blood tests for a complete blood count, including all haematological indices such as erythrocyte count, Haemoglobin (Hb), Packed Cell Volume (PCV), Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH), Mean Corpuscular Haemoglobin Concentration (MCHC), and Red cell Distribution Width (RDW). Gender-based stratification of the study population was performed. Data were analysed using the Student’s unpaired t-test, Chi-square test, and univariate linear regression with Statistical Package for the Social Sciences (SPSS) version 22.0. Results: The study highlighted a high prevalence of anaemia among overt hypothyroid patients 88 (54%) compared to subclinical hypothyroid patients 63 (34.24%). Moreover, the prevalence of anaemia was higher in females than in males. The most common type of anaemia encountered was microcytic anaemia, followed by normocytic anaemia. Linear regression analysis yielded a positive correlation between TSH and all haematological parameters, including RDW. This correlation was especially significant among females. Conclusion: TSH affected all the haematological parameters, including RDW, and the association was stronger in females as compared to males in both subclinical and overt hypothyroidism.

Red Cell Histograms and Spurious Parameters in Anemia – Study of Diagnostic Utility of Autoanalyzer Results

BACKGROUND: Red blood cell (RBC) histograms generated by automated hematology analyzers have shown characteristic patterns useful in identifying the different red cell populations and give diagnostic clues. Although the analyzer results are precise, spurious results have been reported owing to preanalytical and analytical variables which warrant the evaluation of validity of other parameters. AIMS: The study was meant to evaluate the diagnostic utility of red cell indices and histograms in the morphological diagnosis of anemia and to interpret the spurious values generated by autoanalyzers. SETTINGS AND DESIGN: A retrospective cross-sectional study was undertaken including 917 cases of anemia. MATERIALS AND METHODS: The histograms and the red cell indices generated by autoanalyzer Mindray CAL-6000 were studied in all cases and correlated with peripheral smear. STATISTICAL ANALYSIS USED: Analysis was done using Mann–Whitney U-test for medians and interquartile range of numerical variables and Chi-square test/Fisher’s exact test for categorical variables. RESULTS: Characteristic patterns were observed in histograms such as left shift, right shift, and bimodal peaks in microcytic hypochromic anemia, macrocytic anemia, and dimorphic anemia, respectively. Spurious parameters in the study comprised high red cell indices, low RBC count, hemoglobin, and hematocrit mismatch in cases of autoimmune hemolytic anemia. Spuriously high mean corpuscular volume was associated with reticulocytosis. In vitro hemolysis was identified by factitious thrombocytosis with abnormal platelet and RBC histograms. CONCLUSION: Histograms when combined with red cell indices are of practical utility in differentiating the various morphologic types of anemia and are speculative in alerting the hematologists about the spurious parameters, forming an indispensable diagnostic tool.

A Comprehensive Approach to Neonatal Peripheral Blood Findings of Preterm and Full-term Infants: an Updated Review.

Peripheral blood film morphology in neonates is significantly different from the adults as neonatal erythrocytes show a marked heterogeneity. Moreover, there seem to be a more significant numbers of irregular shaped red blood cells such as stomatocytes, keratocytes, schistocytes, and acantocytes in newborns, particularly in preterm infants. This review study focused on the red blood cell morphology in term and preterm neonates to detect clues to distinguish between the peripheral blood film of newborns under physiological and pathological conditions. The peripheral blood findings and blood cell counts in preterm and term neonates were studied and compared to each other using available scientific databases and indexing systems such as PubMed and Google Scholar. This approach is a simple, cost-effective, quick, and informative method to distinguish between physiological and pathological conditions in neonates and detect hematological disorders. Peripheral blood film plays a crucial role in diagnosing anemia and blood-related diseases, determining the type of anemia, and identifying specific morphological abnormalities of red cell membrane disorders.

Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.

Erythroid Krüppel-like factor (KLF1), first discovered in 1992, is an erythroid-restricted transcription factor (TF) that is essential for terminal differentiation of erythroid progenitors. At face value, KLF1 is a rather inconspicuous member of the 26-strong SP/KLF TF family. However, 30years of research have revealed that KLF1 is a jack of all trades in the molecular control of erythropoiesis. Initially described as a one-trick pony required for high-level transcription of the adult HBB gene, we now know that it orchestrates the entire erythroid differentiation program. It does so not only as an activator but also as a repressor. In addition, KLF1 was the first TF shown to be directly involved in enhancer/promoter loop formation. KLF1 variants underlie a wide range of erythroid phenotypes in the human population, varying from very mild conditions such as hereditary persistence of fetal hemoglobin and the In(Lu) blood type in the case of haploinsufficiency, to much more serious non-spherocytic hemolytic anemias in the case of compound heterozygosity, to dominant congenital dyserythropoietic anemia type IV invariably caused by a de novo variant in a highly conserved amino acid in the KLF1 DNA-binding domain. In this chapter, we present an overview of the past and present of KLF1 research and discuss the significance of human KLF1 variants.

Iron Deficiency Anemia among School Going Children of Rural Area of Mardan Khyber Pakhtunkhwa

Iron is essential for normal human growth, including oxygen transport, adenosine triphosphate (ATP) production, DNA synthesis, mitochondrial function, and protection of cells from oxidative damage. Iron deficiency anemia is the most prevalent hematologic disorder in school-going children. Therefore the aims were the study to assess the prevalence of anemia among school-going children of rural areas of Mardan Khyber Pakhtunkhwa. A total of 300 samples were taken from those children of signs and symptoms of Iron deficiency Anemia cross-section survey. Thorough physical Examination, Lab investigations, and Clinical examination. The current research work shows that 1 of 3rd of the school-going children who had signs and symptoms of iron deficiency anemia were affected with iron deficiency Anemia at the ages of 4 to 7 years 40(40%), 7 to 10 years 35(35%) and 10 to 13 years 25(25%) respectively. severe anemia was rare at 10%, moderate anemia at 25% led by the mild type of anemia with a high percentage of 65% on the basis of Hb level. lower class families were more affected by iron deficiency anemia with 60%, children of middle class were less affected by anemia with 35% while children of upper class families were much less affected by anemia which may be due to the socioeconomic state of the family. Therefore it is recommended that iron supplementation and health and nutrition education programs should be strengthened.

Prevalence and Predictors of Iron Deficiency Anemia among Children in Saudi Arabia

Introduction: The long-term impact of iron deficiency anemia on female children was significantly reducing physical growth, neurological development and learning performance. There is limited data about the magnitude of iron deficiency anemia in Saudi Arabia in young children. This study aimed to assess the prevalence and determinants of iron deficiency anemia in children attending primary health care at the age of the school entry. Methods: This is a cross-sectional study including children at the age of school entry and they should be tested for detection of anemia after their parents sign an informed consent. Children with other types of anemia were excluded from this study. The minimal sample size is calculated using Raosoft calculator based on the equation for proportion estimation. Based on this proportion, at the confidence level of 95% and estimation error of 0.05 the initial sample size is calculated to be 384 participants. A questionnaire was used to collect data from the mothers or caregiver for the children. Results: A total sample of 384 attendants in PHC centers responded to the questionnaire, of them 59.5% were males. About 68% of the mothers have a high level of education as university or postgraduate studies and 83% were married. The prevalence of anemia was found to be 24% among children for both genders. Only nationality was a significant predictor for iron-deficiency anemia among children. Saudis children had a significantly lower prevalence of anemia than non-Saudis. Conclusions: The prevalence of anemia among children at age of school entry was high and more attention to the nutritional habits of children should be given by mothers and health specialists. Educational campaign should be conducted to increase awareness about proper children nutrition among women, particularly women with non-Saudi nationality.

In vitro studies of a novel liposomal formulation for safe and efficient iron delivery

AbstractAnemia of chronic diseases is the most popular type of anemia. Treatment of such conditions is based on iron supplementation. However, chronic conditions are accompanied by increased activity of hepcidin, which significantly limits iron absorption from traditional supplementation forms. Modern liposomal technologies allow for efficient encapsulation of macromolecules, which can result in a significant absorption improvement. The presented results show an encapsulation efficiency of more than 90% of iron‐dextran complexes, with a decrease in cytotoxicity and reactive oxygen species generation.Practical Application: These results can be used to prepare novel liposomal iron ion formulation with high encapsulation efficiency due to the appliance of iron(III) oxide complex with dextran.

A new computer‐aided diagnostic method for classifying anaemia disease: Hybrid use of Tree Bagger and metaheuristics

AbstractAnaemia occurs when the haemoglobin (Hgb) value falls below a certain reference range. It requires many blood tests, radiological images, and tests for diagnosis and treatment. By processing medical data from patients with artificial intelligence and machine learning methods, disease predictions can be made for newly ill individuals and decision‐support mechanisms can be created for physicians with these predictions. Thanks to these methods, which are very important in reducing the margin of error in the diagnoses made by doctors, the evaluation of data records in health institutions is also important for patients and hospitals. In this study, six hybrid models are proposed to classify non‐anaemia records, Hgb‐anaemia, folate deficiency anaemia (FDA), iron deficiency anaemia (IDA), and B12 deficiency anaemia by combining artificial intelligence and machine learning methods TreeBagger, Crow Search Algorithm (CSA), Chicken Swarm Optimization Algorithm (CSO) and JAYA methods. The proposed hybrid models are analysed with two different approaches, with/without applying the SMOTE technique to achieve high performance by better emphasizing the importance of parameters. To solve the multiclass anaemia classification problem, fuzzy logic‐based parameter optimization is applied to improve the class‐based accuracy as well as the overall accuracy in the dataset. The proposed methods are evaluated using ROC criteria to build a prediction model to determine the anaemia type of anaemic patients. As a result of the study on the dataset taken from the Kaggle database, it is observed that the six proposed hybrid methods outperformed other studies using the same dataset and similar studies in the literature.

Diet-Related Anemias: A Comprehensive Review on Types, Causes, Diagnosis, and Treatment

Background: Anemia, a prevalent blood disorder characterized by reduced red blood cells or hemoglobin, has diverse etiologies related to nutritional deficiencies, notably iron, vitamin B12, and B9. Its impact on quality of life is especially significant in elderly individuals and those with chronic conditions. Objective: This systematic review aims to collate and synthesize the current literature on nutrient-related anemias, focusing on types, pathophysiology, diagnosis, and treatment. Methods: A thorough search was conducted in databases including Google Scholar, PubMed, and Research Gate using keywords such as "anemia," "types," "pathophysiology," "diagnosis," and "treatment." The review encompasses studies that detail the prevalence, causes, symptoms, risk factors, diagnostic methods, and treatment options for anemias related to iron, vitamin B12, and B9 deficiencies. Results: The review found that anemia affects approximately 24.8% of the global population, with higher prevalence rates in vulnerable groups such as infants, children, and pregnant women. Iron deficiency anemia, the primary form globally, is prevalent in various populations due to factors like poverty, malnutrition, and gastrointestinal conditions. Diagnostic approaches include both traditional laboratory tests and newer metabolite tests like homocysteine and methylmalonic acid. Treatment strategies vary based on the type of deficiency and include oral and intramuscular supplements, with intravenous iron for malabsorption cases and folic acid for folate deficiency. Conclusion: Early detection and effective treatment of diet-related anemias are crucial to prevent serious complications and mitigate their impact on quality of life. The review highlights the importance of tailored treatment approaches, including dietary changes, supplements, and medications, to address the specific needs of individuals with different types of anemia.

Association between different types of preoperative anemia and tumor characteristics, systemic inflammation, and survival in colorectal cancer.

Patients with colorectal cancer often have anemia and other symptoms after diagnosis, especially in patients with advanced colorectal cancer. This study explored the association between different types of preoperative anemia and tumor characteristics and inflammatory response in patients with colorectal cancer and to evaluate the prognosis of patients with different types of anemia before operation. The clinical data of 95 patients with colorectal cancer treated in the Fourth Hospital of Hebei Medical University from February 2016 to January 2018 were retrospectively analyzed. According to the hemoglobin concentration (Hb), mean corpuscular volume (MCV), mean hemoglobin content (MCH) and mean hemoglobin concentration (MCHC), the patients were divided into the non-anemia group, normal cell anemia group, and small cell anemia group. The three groups' general data, oncological characteristics, and mGPS scores were compared. The patients were followed up for five years, and the survival analysis was carried out. The cox proportional hazard regression model was used to analyze the prognostic factors of patients with colorectal cancer. The preoperative anemia rate of patients with colorectal cancer was 43.15% (41/95). There were significant differences in gender, weight loss, CA724, tumor location, tumor size, TNM stage, mGPS score, and positive expression rate of Ki-67 among different anemia groups. There was a significant difference in survival time among a non-anemia group, small cell anemia group, and normal cell anemia group (P<0.05). Multivariate analysis showed that tumor size, TNM stage, distant metastasis, mGPS score, Ki-67 positive expression rate, and anemia type were independent risk factors affecting the prognosis of colorectal cancer patients (P<0.05). The oncological characteristics of colorectal cancer patients with different types of preoperative anemia are different. Preoperative anemia and systemic inflammatory status are independent risk factors for the prognosis of colorectal cancer patients.

The use of hepcidin as a marker for diagnosing the type of anemia in patients with high activity of rheumatoid arthritis

Anemia is still one of the most common comorbidities that affects the prognosis of the underlying disease and the quality of life of patients.Objective: to evaluate the value of serum hepcidin level determination for the differential diagnosis of anemia of chronic disease/inflammation (ACD) in patients with active rheumatoid arthritis (RA).Material and methods. The study included 47 patients with RA with anemia consecutively admitted to V.A. Nasonova Research Institute of Rheumatology for inpatient treatment. According to WHO recommendations, the criterion for anemia was a decrease in hemoglobin level ˂ 120 g/l in women and ˂ 130 g/l in men. The control group consisted of 29 patients without anemia. In all patients, the DAS28 index was determined, and clinical and biochemical blood parameters were examined: serum iron, total iron-binding capacity of serum, hepcidin, cytokines, including interleukin (IL) 6 and tumor necrosis factor α (TNFα).Results and discussion. Of 47 patients with active RA and anemia, only 13 (28%) were diagnosed with isolated ACD. Iron deficiency anemia (IDA) was found in 17 (36%), the remaining 17 patients had a mixed genesis of anemia (ACD + IDA). Patients with isolated ACD had a statistically significant higher level of hepcidin(120.3±56.1 pg/ml) compared to the control group (90.3±37.9 pg/ml) and to patients with RA + IDA. In isolated ACD, the levels of IL6, TNFα, rheumatoid factor and antibodies to cyclic citrullinated peptide were 2 times higher (p&lt;0.05) than in RA with iron deficiency (both in IDA and in mixed genesis of anemia). Only in isolated ACD did the hepcidin level correlate with the IL6 concentrations (r=0.8); no such correlation was found in patients with IDA and anemia of mixed origin or in patients without anemia. No correlation with TNFα levels was found in any subgroup. Conclusion. Hepcidin levels are an informative indicator for the differential diagnosis of the type of anemia during active inflammation. In RA patients with ACD, the maximum hepcidin concentration in blood serum was determined, and in IDA it was found to be lower than the reference values. The importance of the hepcidin – IL6 axis and the lack of influence of the proinflammatory cytokine TNFα on iron metabolism were demonstrated. Keywords: hepcidin; anemia; difficult-to-treat patient; rheumatoid arthritis&gt; ˂ 0.05) than in RA with iron deficiency (both in IDA and in mixed genesis of anemia). Only in isolated ACD did the hepcidin level correlate with the IL6 concentrations (r=0.8); no such correlation was found in patients with IDA and anemia of mixed origin or in patients without anemia. No correlation with TNFα levels was found in any subgroup.Conclusion. Hepcidin levels are an informative indicator for the differential diagnosis of the type of anemia during active inflammation. In RA patients with ACD, the maximum hepcidin concentration in blood serum was determined, and in IDA it was found to be lower than the reference values. The importance of the hepcidin – IL6 axis and the lack of influence of the proinflammatory cytokine TNFα on iron metabolism were demonstrated.

Hematological abnormalities in chronic liver disease and their association with severity and types of chronic liver disease

This study aimed to assess the hematological abnormalities in CLD patients and to study the association of hematological abnormalities with type and severity of CLD. This study was conducted as a facility based cross-sectional study at tertiary care centre on confirmed cases of chronic liver disease. Detailed clinical history along with clinical examination findings were recorded. All patients were then subjected to investigations. Mean age of patients with CLD was 48.8±16.9 years and majority of patients were males (76%). Anemia was observed in 71% cases with CLD whereas leukocytopenia and thrombocytopenia were noted in 21% and 56% cases respectively. Mean MCV, MCH, serum bilirubin and iron were significantly higher in cases with alcoholic liver disease whereas TIBC was significantly lower in ALD cases as compared to NALD cases (p&amp;#60;0.05). Mean hemoglobin, platelet levels, MCV, albumin and iron levels were significantly lower in cases with severe liver disease (Child Pugh Class C). However, serum bilirubin, prothrombin time and TIBC levels increased significantly with increase in severity of CLD (p&amp;#60;0.05). Hematological abnormalities particularly normocytic normochromic anemia and thrombocytopenia are common in cases with CLD, which might affect the prognosis of patients with CLD. Assessing the severity and type of anaemia is a useful tool for early initiation of the treatment in patients of CLD for reducing the morbidity and mortality. Early detection and treatment of haematological changes can prevent complications and reduce the mortality in CLD patients.

ETIOLOGY OF REGENERATIVE ANEMIA IN DOGS AND CATS

The study was conducted between March 2020 – December 2022 on 129 dogs and 63 cats, different breeds and age, both males and females, clinically diagnosed with anemia. All individuals were subjected to a full hematology test including blood analysis and blood smear assessment where regenerative reaction was confirmed in 22 dogs and 9 cats. To understand the ability of the hematogenous bone marrow to respond and develop new red blood cells (RBCs) and the effectiveness of the therapy is important to recognize the main causes of anemia that lead to the destruction, loss or deficit in production. The research highlighted post-hemorrhagic anemia as the most important cause of regenerative reaction in dogs (68,2%) while in cats, hemolytic anemia was the primary reason of reticulocytosis (55,6%). Correctly identifying the type of anemia in terms of hematogenous bone marrow responsiveness is of utmost importance in tailoring the treatment, preventing complications or monitoring the progress of the patient and one of main tools used to assess and differentiate between the RBCs disorders

To Study the Pattern of Anemia in Type 2 Diabetes Mellitus in Elderly Hospitalized Patients

Background: Anemia found in diabetes patients is often unrecognized like many other chronic diseases. Anemia is more common in people with diabetes due to a variety of causes. The aim of this study was to determine the severity and morphological types of anemia among type II diabetic elderly hospitalized patients. Methodology: The present study was a hospital based cross sectional study conducted at Father Muller Medical Collage Hospital, Mangalore Karnataka over a period of 6 months. The cases for the study included 129 elderly patients with having Type 2 Diabetes Mellitus (DM). 129 Hospitalized elderly patients over the age of 60 years who were confirmed to have type 2 DM patient’s demographic data and the blood samples are analyzed for Complete blood count, Peripheral smear for type of anemia, Random blood glucose, Glycated hemoglobin. Result: A total 129 Hospitalized elderly type 2 DM patients were included in the study. Out of 129 subjects, 55.03% were males and 44.97% were females. Of these 24.8% patients had mild anemia, 63.56% had moderate anemia and 11.64% had severe anemia according to clinical degree of anemia based on hemoglobin level. 67.76% patients had microcytic hypochromic anemia, and 30.24% patients had normocytic normochromic anemia. The prevalence of type 2DM is high in male than the female population. Conclusion: The study results exhibit a higher level of the prevalence of anemia in Type 2 DM subjects. The findings of our study suggest that moderate degree of anemia is a common finding, and morphologically, the leading type of anemia was normocytic normochromic anemia. Keywords: Diabetes Mellitus, Anemia, Hemoglobin, Hyperglycemia.

The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations.

BRCA1 is involved in the Fanconi anaemia (FA) pathway, which coordinates repair of DNA interstrand cross-links. FA is a rare genetic disorder characterised by bone marrow failure, cancer predisposition and congenital abnormalities, caused by biallelic mutations affecting proteins in the FA pathway. Germline monoallelic pathogenic BRCA1 mutations are known to be associated with hereditary breast/ovarian cancer, however biallelic mutations of BRCA1 were long predicted to be incompatible with embryonic viability, hence BRCA1 was not considered to be a canonical FA gene. Despite this, several patients with biallelic pathogenic BRCA1 mutations and FA-like phenotypes have been identified - defining a new FA type (FA-S) and designating BRCA1 as an FA gene. This report presents a scoping review of the cases of biallelic BRCA1 mutations identified to date, discusses the functional effects of the mutations identified, and proposes a phenotypic spectrum of BRCA1 mutations based upon available clinical and genetic data. We report that this FA-S cohort phenotype includes short stature, microcephaly, facial dysmorphisms, hypo/hyperpigmented lesions, intellectual disability, chromosomal sensitivity to crosslinking agents and predisposition to breast/ovarian cancer and/or childhood cancers, with some patients exhibiting sensitivity to chemotherapy. Unlike most other types of FA, FA-S patients lack bone marrow failure.

Functional iron deficiency anemia was associated with higher mortality in chronic kidney disease patients: the NHANES III follow-up study

Anemia, a common complication of chronic kidney disease (CKD), is associated with poor prognosis. However, it is not completely clear whether this association is caused by anemia per se or other comorbidities. Whether different types of iron deficiency anemia can predict the outcomes of CKD remains unclear. The dataset from NHANES III was analyzed and Cox multivariate regression models and propensity score matching (PSM) method were used to evaluate the effect of anemia on mortality. Of 4103 patients with CKD, 14.6% had anemia. Among those with anemia, 38.8% had absolute iron deficiency (AID), and 19.8% had functional iron deficiency (FID). During the median follow-up time of 13.8 years, 2964 deaths and 804 cardiovascular deaths were observed. Anemia was robustly associated with a high risk of all-cause mortality in CKD patients after adjusting covariates by two multivariate regression models (Model 1: HR = 1.485, 95%CI:1.340–1.647, p < 0.001; Model 2: HR = 1.391, 95%CI:1.250–1.546, p < 0.001). In the PSM cohort, anemia was still an independent risk factor for all-cause mortality (Model 1: HR = 1.443, 95%CI: 1.256–1.656, p < 0.001; Model 2: HR = 1.357, 95%CI:1.177–1.564, p < 0.001). In the CKD population, anemia patients with FID had the highest risk of mortality than the other anemia groups (p < 0.05), while AID had a mortality rate similar to those without anemia (p > 0.05). In conclusion, anemia was associated with a worse prognosis in patients with CKD, which may be attributed to the higher mortality risk of FID rather than AID. AID wasn’t associated with a higher mortality rate compared with CKD patients without anemia.

The effect of iron deficiency anemia on myocardial function in pediatrics

BackgroundIron deficiency is one of the most common types of anemia in children. Anemia leads to tissue hypoxia, which activates compensatory mechanisms such as increased cardiac output. Tissue Doppler imaging (TDI) is a useful echocardiographic technique for evaluation of regional and global myocardial systolic and diastolic function. ObjectivesThis study aimed to determine whether iron deficiency anemia (IDA) affects myocardial function in pediatric patients using conventional echocardiography and TDI. MethodsThis case-control study was conducted at an outpatient general pediatric clinic in cooperation with the Cardiology Unit of the Pediatric Department of Fayoum University Hospital from May 2021 to February 2022. The study included 30 cases with IDA and 30 apparently healthy children. The two study groups were matched for age and sex. ResultsThere was an increase in left ventricular end-diastolic diameter (LVEDD), while the control group showed increased ejection time (ET). There was a statistically significant lower mean E/A ratio among cases. There was a positive correlation between serum iron levels, ET, and isovolumetric contraction time (IVCT) among the cases. Additionally, there was a negative correlation between hemoglobin levels and LVEDD in the entire study group. No significant difference was found between the two study groups regarding the Tei index. ConclusionMinimal alterations in LV function parameters may occur due to IDA. A decrease in serum iron levels was significantly associated with further decreases in ET and IVCT. Additionally, there was a statistically significant lower mean E/A ratio among cases.

Prevalence of Undiagnosed Iron Deficiency Anemia and Associated Factors Among Female Undergraduate Medical Students in Makkah, Saudi Arabia.

Iron deficiency anemia is the most common type of anemia according to the World Health Organization. Females are more likely to be affected than males. There are several factors causing iron deficiency anemia, such as increased loss of iron, decreased intake of iron, and increased utilization of iron. There are limited research studies evaluating the risk factors that cause anemia among female medical students in Saudi Arabia. For this, the study aimed to identify the prevalence of undiagnosed iron deficiency anemia (IDA) among young female university students and to identify if there is any correlation between IDA and several factors including dietary habits, psychological stress, anxiety status, and body mass index. A cross-sectional observational study was performed between October 2022 and December 2022 with a sample of 100 healthy female students aged between 19 and 23 years, who were studying at the medical colleges of Umm Al-Qura University, Saudi Arabia. Blood samples were collected to perform complete blood count and iron profile tests. Also, a survey was done to find correlation between iron deficiency anemia and dietary intake, drinks, stress, anxiety, and body mass index (BMI). Independent t-test or Mann-Whitney U test were used to compare values for non-anemic with anemic participants, and linear regression tests were used to analyze differences between non-anemic and anemic participants'dietary intakefactors and stress and anxiety scores. The level of significance was set at p<0.05. The findings represent an overall prevalence of iron deficiency anemia in female medical students based on the lab finding results. Thus, students were divided into two following groups: anemic (13%) with hemoglobin (Hb) concentration <12 g/dL and non-anemic (84%) with Hb concentration ≥12 g/dL. When comparing the two groups, results showed significant differences in the majority of RBC indices (hematocrit {HCT}, mean corpuscular volume {MCV}, mean corpuscular hemoglobin {MCH}, red cell distribution width {RDW}) and iron profiles, p-value was <0.05.On evaluation of the different types of food consumption, the mean iron intake was around 7 mg/day, and in 65% of the participants, it was below the estimated average requirement (EAR) of iron (8.1 mg/dL). The perceived stress scale (PSS) shows that 63% of the participants experienced moderate stress and 58% reported severe anxiety by the generalized anxiety disorder (GAD) scale. In multiple linear regression, iron was positively associated with hemoglobin concentrations, whereas stress scores were negatively associated with hemoglobin concentrations. There is a relatively low prevalence of anemia and most of it was foundof the microcytic type, indicating that this condition is a common health issue among local female college students. There was no independent association between stress or anxiety and hemoglobin levels.