Unexplained Anemia Research Articles

X-Ray Diagnostics of Esophageal Hernia in Patients with Iron Deficiency Anemia

Abstract: Iron deficiency anemia (IDA) is a widespread hematologic condition often linked to nutritional deficits or chronic blood loss. However, gastrointestinal causes—particularly esophageal hernia—are frequently underdiagnosed contributors. This study investigates the role of X-ray diagnostics in identifying esophageal hernia among patients with IDA. A total of 52 patients with confirmed iron deficiency anemia underwent upper gastrointestinal barium-contrast radiography. The results revealed esophageal hernia in 53.8% of cases, predominantly sliding hernias. A significant correlation was observed between the presence of hernia and the severity of anemia. Additionally, mucosal erosions and reflux were frequently identified among those with moderate to severe IDA. These findings demonstrate that X-ray imaging is a valuable and accessible tool in detecting esophageal hernia, especially in cases of unexplained or treatment-resistant anemia. Incorporating radiological screening into diagnostic protocols may improve detection rates and guide appropriate gastroenterological management.

Scurvy in the modern era: a case of vitamin C deficiency with unexplained bruising and anaemia

Scurvy in the modern era: a case of vitamin C deficiency with unexplained bruising and anaemia

From Confusion to Clarity: Diagnosing A Type II Endoleak in a Patient With Unexplained Anemia and Hypoperfusion

From Confusion to Clarity: Diagnosing A Type II Endoleak in a Patient With Unexplained Anemia and Hypoperfusion

Prevalence Of Significant Endoscopic and Histopathologic Findings in Patients Presenting with Unexplained Iron Deficiency Anemia. Aprosepective study.

Prevalence Of Significant Endoscopic and Histopathologic Findings in Patients Presenting with Unexplained Iron Deficiency Anemia. Aprosepective study.

Elusive Nexus: A Case of Megaloblastic Anaemia Secondary to Jejunal Diverticulosis

Jejunal diverticulosis is a rare but often underdiagnosed condition that can lead to significant complications, including malabsorption and megaloblastic anaemia. Its non specific symptoms and the lack of routine small bowel imaging contribute to frequent diagnostic delays. This case report underscores the clinical importance of recognising jejunal diverticulosis as a potential cause of unexplained macrocytic anaemia and highlights the need for timely diagnosis and management. A 35-year-old male presented with progressive fatigue, pallor and abdominal discomfort for three months. Laboratory findings revealed macrocytic anaemia {Haemoglobin (Hb) 7.8 g/ dL, Mean Corpuscular Volume (MCV) 108 fL} and severe vitamin B12 deficiency (120 pg/mL). Abdominal Computed Tomography (CT) imaging identified multiple jejunal diverticula and a barium meal follow-through confirmed the diagnosis. The patient’s anaemia was attributed to vitamin B12 malabsorption due to bacterial overgrowth in the diverticula. Treatment with intramuscular vitamin B12 led to complete symptomatic and haematological recovery over three months. This case highlights the necessity of considering small bowel diverticulosis in patients with persistent macrocytic anaemia when conventional causes have been ruled out. Early recognition through targeted imaging can prevent complications and guide appropriate management. Given the rarity of reported cases, particularly in younger patients, this case contributes valuable insight into the spectrum of presentations and reinforces the need for heightened clinical awareness.

Colonic Varices and Portal Hypertension Presenting as Unexplained Anemia: A Case Report

Colonic Varices and Portal Hypertension Presenting as Unexplained Anemia: A Case Report

Bloodletting as Medical Child Abuse Revealed by Lack of Iron Accumulation Despite Multiple Erythrocyte Transfusions.

The central venous line was used for feeding an infant with failure to thrive. He later developed unexplained severe transfusion-dependent anemia. Ferritin remained low despite more than 100 transfusions. The medical arguments mainly based upon iron physiology provided strong suspicion for intended bloodletting, which was documented by covert video. The mother was very active on social media lacking behavioral signs of Munchhausen by proxy during hospital contacts. Despite clear medical evidence of medical child abuse, the diagnosis was delayed by several years.

Severe Neonatal Anaemia Caused by Fetomaternal Haemorrhage with a Positive Neonatal Outcome

Spontaneous massive fetomaternal hemorrhage (FMH) is a rare but significant cause of severe neonatal anemia, often presenting without identifiable risk factors and posing diagnostic challenges. This report describes the case of a 35-year-old G2A1 mother with an uneventful pregnancy who delivered a neonate exhibiting profound anemia and respiratory distress shortly after birth. FMH was confirmed by a Kleihauer-Betke test, revealing a significant fetal blood loss of 198 mL into the maternal circulation. Prompt intervention with packed red blood cell transfusion led to stabilization and a favorable neonatal outcome. FMH frequently presents with nonspecific symptoms such as decreased fetal movements or neonatal anemia, emphasizing the importance of clinician vigilance. Diagnostic methods, including the Kleihauer-Betke test and flow cytometry, play a critical role in confirming FMH and guiding treatment. This case highlights the necessity of early recognition and intervention, as well as routine FMH screening in Rh-negative pregnancies and unexplained neonatal anemia, to improve maternal and neonatal outcomes. Enhanced awareness and advancements in diagnostic technologies are crucial for better management of this underrecognized condition.

Severe Neonatal Anaemia Caused by Fetomaternal Haemorrhage with a Positive Neonatal Outcome

Spontaneous massive fetomaternal hemorrhage (FMH) is a rare but significant cause of severe neonatal anemia, often presenting without identifiable risk factors and posing diagnostic challenges. This report describes the case of a 35-year-old G2A1 mother with an uneventful pregnancy who delivered a neonate exhibiting profound anemia and respiratory distress shortly after birth. FMH was confirmed by a Kleihauer-Betke test, revealing a significant fetal blood loss of 198 mL into the maternal circulation. Prompt intervention with packed red blood cell transfusion led to stabilization and a favorable neonatal outcome. FMH frequently presents with nonspecific symptoms such as decreased fetal movements or neonatal anemia, emphasizing the importance of clinician vigilance. Diagnostic methods, including the Kleihauer-Betke test and flow cytometry, play a critical role in confirming FMH and guiding treatment. This case highlights the necessity of early recognition and intervention, as well as routine FMH screening in Rh-negative pregnancies and unexplained neonatal anemia, to improve maternal and neonatal outcomes. Enhanced awareness and advancements in diagnostic technologies are crucial for better management of this underrecognized condition.

Do we Need to Perform Bone Marrow Examination in all Subjects Suspected of MDS? Evaluation and Validation of Non-Invasive (Web-Based) Diagnostic Algorithm.

Bone marrow examination (BME) is the gold standard of diagnosing myelodysplastic syndromes (MDS). it is invasive, painful, causing possible bleeding, inaccurate (aspirate hemodilution), and subjective (inter-observer interpretation discordance). We developed non-invasive diagnostic tools: A logistic regression formula [LeukRes 2018], then a web algorithm using 10 variables (age, gender, Hb, MCV, WBC, ANC, monocytes, PLT, glucose, creatinine) to diagnose/exclude MDS [BldAdv 2021]. Here, we perform external validation of the model. From the TASMC BM registry (2019-22) we identified and compared the model performance between MDS patients and controls (> 50 year with unexplained anemia, not MDS), all BME diagnosed, and not used in model building. The model was accurate and predicted MDS in 63% of 103 patients, and excluded (correctly) in 83% of 101 controls. It miss-classified in 11%/7% respectively, and was indeterminate in 26%/10% respectively. The positive predictive value (PPV), NPV, sensitivity, and specificity (excluding the indeterminate group) were 90%, 88%, 86%, and 92%, respectively. Subgroup (Lower/higher risk, LR/HR) analysis results were similar. The MDS diagnostic model was validated and can be used, mainly for MDS exclusion, especially in suspected LR-MDS, avoiding BME in some patients. In the future incorporating peripheral blood genetics and morphometry can further improve the model.

Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α0-thalassemia interaction phenotype.

To elucidate the molecular basis, hematological features, and electrophoretic and chromatographic mobility behavior of an unstable α2-globin chain variant, and to describe the diagnostic approach. A Thai patient with unexplained chronic anemia and her daughter were investigated. Hematological data were analyzed using a standard automated cell counter. Hemoglobin was analyzed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational analysis was performed using appropriate polymerase chain reaction (PCR) techniques and direct sequencing. Additionally, α-globin haplotype analysis was conducted. Simple and rapid diagnostic methods were developed. Hemoglobin analysis in the patient revealed anomalous peaks separated from normal hemoglobin visible using the HPLC technique. These peaks were virtually absent in the daughter. DNA analysis identified a G to C mutation at codon 14 of the α2-globin gene responsible for hemoglobin Jax in trans to the α0-thalassemia gene in the patient. Heterozygosity of this mutation was identified in her daughter. Hematological analysis showed mild thalassemia-like changes in simple heterozygotes and exhibited a hemoglobin H-like phenotype when combined with α0-thalassemia. Isopropanol stability testing and bioinformatic software indicated that the variant was unstable and potentially damaging. This mutation was confirmed using allele-specific PCR. Hemoglobin Jax was strongly associated with the haplotype [+ - S + - + -]. Hemoglobin Jax, a pathological α-globin variant, is asymptomatic in simple heterozygotes and demonstrates more pronounced clinical effects when associated with deletional α-thalassemia. This knowledge can help develop strategies to prevent hemoglobinopathies in regions of high prevalence. Accurate identification requires DNA level analysis.

Endoscopic Tunnel Dissection of an Oesophageal Bronchogenic Cyst: A Case Report

Introduction: A bronchogenic cyst is a very rare congenital malformation typically found in the middle and superior mediastinum. Infrequently, it can be located in the pericar-dium, diaphragm, oesophagus, and stomach. Intramural oesophageal bronchogenic cysts are highly uncommon, and because of this, they have not been extensively studied. They are gen-erally asymptomatic; however, due to their potential to cause complications, such as evolution into malignancy, the removal of these cysts is recommended. Routinely, techniques, including thoracotomy and thoracoscopy, have been adopted for excision. This case report details our success in performing a complete resection of an intramural oesophageal bronchogenic cyst via a novel approach of Submucosal Tunneling Endoscopic Resection (STER). Case Presentation: A 62-year-old woman was referred for an outpatient gastroscopy and co-lonoscopy for further investigation of her unexplained iron deficiency anaemia, abdominal pain, diarrhoea, and weight loss. A single oesophageal nodule was found on gastroscopy, which was further characterized and deemed to be benign on upper endoscopic ultrasound. The lesion was removed via the STER technique. During the procedure, submucosal fibres were dissected and a full-thickness myotomy was performed to completely remove the lesion. Histologically, the lesion showed a cyst lining comprising ciliated columnar epithelium, a finding consistent with a bronchogenic cyst. The patient maintained a normal diet and re-mained asymptomatic throughout the follow-up period. Conclusion: This report documents the successful resection of an oesophageal bronchogenic cyst via the STER technique. This novel approach appears to be a valuable tool with negligible invasiveness. It provides a feasible option for patients.

Anaemia of Inflammation Preceding Dyspnoea, Dry Cough and Weight Loss in Primary Pulmonary Lymphoma.

There is little information in the literature on the early, sub-clinical stage and laboratory test results in patients with primary mucosa-associated lymphoid tissue (MALT) lymphoma of the lung, a rare disease. In a 75-year-old man, an open lung biopsy-confirmed diagnosis of primary pulmonary lymphoma was preceded by almost six months of anaemia of inflammatory disease and monocytosis without any pulmonary symptoms. When he developed a dry cough, increasing dyspnoea and marked weight loss, these changes deepened and became associated with reactive thrombocytosis; markedly increased ferritin and C-reactive protein (positive acute-phase reactants), as well as reduced albumin and transferrin (negative acute-phase reactants). Globulins increased, due to an increase in the alpha1, alpha2 and gamma fractions, and mild hyponatraemia developed due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH) secondary to the intrathoracic disease. All these changes were completely reversible following successful treatment and complete remission. The previously unreported detailed laboratory features of early, sub-clinical and advanced primary pulmonary lymphoma are presented. When a potentially susceptible patient develops an unexplained anaemia of inflammatory disease, primary pulmonary lymphoma should be added to the differential diagnosis. B-cell pulmonary lymphoma without extra-pulmonary disease (primary pulmonary lymphoma) remains a rare entity, often arising from mucosa-associated lymphoid tissue, presenting with non-specific symptoms (cough, dyspnoea) and imaging (nodules <5 cm or areas of consolidation on CT), and diagnosed by an adequate biopsy.Our patient's course demonstrates early, pre-clinical changes: anaemia of inflammation and monocytosis, which became more severe as symptoms developed and imaging abnormalities progressed, and was associated with marked acute-phase response (for example, substantially increased ferritin levels), increased globulins and hyponatraemia due to the syndrome of inappropriate antidiuretic hormone secretion.In patients with unexplained anaemia of inflammatory disease, occult pulmonary lymphoma should be considered in the differential diagnosis.

Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine.

Background/Objectives: In heme degradation, biliverdin reductase catalyzes the conversion of biliverdin to bilirubin. Defects in the biliverdin reductase A gene (BLVRA) causing biliverdinuria are extraordinarily rare in humans, and this inborn error of metabolism has not been reported in other mammals. The objective of this study was to diagnose biliverdinuria and identify the causal BLVRA variants in two adult mixed-breed dogs with life-long green urine. One of the dogs also had an unexplained regenerative anemia and mild hepatopathy. Methods: Clinicopathological evaluations, urinary mass spectroscopy, and molecular genetic studies were performed. Urine metabolic screening identified increased biliverdin concentrations in both cases relative to control dogs. Results: Whole genome and Sanger sequencing revealed that each case was homozygous for large deletions in BLVRA: UU_Cfam_GSD_1.0/canFam4 chr18:6,532,022-6,551,313 (19,292 bp) in Case 1 and chr18:6,543,863-6,545,908 (2046 bp) in Case 2. These variants were predicted to result in major BLVRA truncations (ENSCAFT00805017018.1 p.[Lys117-Lys296del] and p.[Ala154fs], respectively) and loss of enzyme function. In a genomic variant database, 671 dogs from 63 breeds had coverage over these regions, ruling out homozygosity for the BLVRA deletions. A gene defect for the regenerative anemia in Case 1 was not discovered. Conclusions: While expected to be rare, genotyping for the BLVRA deletions can be used to identify other affected and carrier dogs. This study illustrates the use of targeted metabolic and genomic screening as key diagnostic tools to diagnose a rare metabolic disorder. These are the first confirmed cases of biliverdinuria caused by BLVRA defects in non-human mammals.

Incidental identification of neonatal babesiosis: a case report

BackgroundEvaluation of suspected neonatal sepsis rarely considers diagnostic workup for vector-borne illnesses, as these are generally infrequent etiologies in the febrile neonate. Babesiosis -- a zoonosis caused by apicomplexan parasites of the genus Babesia and spread to humans by the Ixodes scapularis tick -- can either be clinically silent, or symptomatic with fever, constitutional symptoms, as well as anemia and thrombocytopenia. We report here a rare case of neonatal babesiosis that was incidentally identified during routine workup for neonatal sepsis.Case presentationA full-term male neonate with fever was admitted to the hospital for sepsis evaluation. On routine complete blood count with manual differential blood smear, parasites were incidentally detected, later identified as Babesia microti. On review of maternal history, there was antenatal history of unexplained thrombocytopenia and anemia, and post-hoc review of peripartum maternal blood smear showed rare intra-erythrocytic parasites, which were confirmed as B. microti by PCR testing of maternal blood. Ultimately, the infant was successfully treated with azithromycin and atovaquone, received a red blood cell transfusion for symptomatic anemia, and remained well at his outpatient follow-up visit.ConclusionThis unusual case highlights the importance of including neonatal babesiosis in the differential diagnosis for neonatal sepsis in endemic regions, including careful review of maternal antenatal exposure history and labs, and consideration of peripheral blood smear in suggestive cases.

Under Documentation of Anemia in Older Adults in Primary Care Practices

Under Documentation of Anemia in Older Adults in Primary Care Practices

Evaluation of Erythroid Maturation Patterns in Unexplained anemia in the Elderly

Evaluation of Erythroid Maturation Patterns in Unexplained anemia in the Elderly

Co-existence of Myelodysplastic Disorders and Plasma Cell Neoplasms: Case Series

Abstract Introduction/Objective The development of myelodysplastic syndrome (MDS) in patients with plasma cell neoplasm (PCN) receiving treatment is well reported. However, co-occurrence of both, without any chemotherapy history, is sparsely documented in the literature. We aim to highlight the possible association between both. Methods/Case Report Database search was done using Epic Slicer-Dicer for cases with biopsy proven co-existing MDS and PCN (from 2010-2022). The patients’ charts were reviewed to collect and analyze the clinical features. Results (if a Case Study enter NA) We identified 3 patients, all in their seventies on presentation: First patient: man, presented with unexplained chronic anemia. Serum protein electrophoresis (SPEP) showed elevated levels of monoclonal IgG kappa (4.2 g/dl). Evaluation of the BM biopsy revealed MDS with low blasts (WHO-5) with IgG plasma cell myeloma (56% Kappa-restricted plasma cells). Chromosome analysis revealed normal karyotype. Molecular studies were not done. Second patient: man, with Rheumatoid Arthritis and anemia. SPEP revealed biclonal IgG lambda (2.0 g/dl). BM biopsy indicated 5-8% lambda-restricted plasma cell proliferation. Anemia was managed with darbopoetin, but without improvement. The patient did not get chemotherapy. Follow-up BM biopsy was done, showing MDS with low blasts and ringed sideroblasts (WHO-5) alongside the PCN. FISH showed two abnormal IGH rearrangement populations. Chromosome analysis revealed normal karyotype. Molecular studies were not done. Third patient: woman, with pancytopenia. SPEP indicated monoclonal protein IgG lambda (1.8 g/dl). BM biopsy revealed 10% lambda-restricted plasma cell proliferation, coexisting with MDS with increased blasts grade 2 (WHO-5). Molecular studies showed: 2-FLT3 L601_K602insNFREYEYDL and ASXL1 E635fs*15. Chromosome analysis revealed normal karyotype. No in common clinical findings found during chart reviewing the cases. Conclusion Further investigating the underlying pathology, bone marrow microenvironment, and molecular and cytogenetics abnormalities in a larger number of patients with co-existing MDS and PCN is important. Also, if there was an association, it is important to study the sequence of occurrence between them.

Waldenstrom's Macroglobulinemia: A Case Report

Waldenström's macroglobulinemia (WM) is a rare, slow-growing hematologic malignancy marked by elevated levels of monoclonal immunoglobulin M (IgM) and bone marrow infiltration by lymphoplasmacytic cells. This case details a 72-year-old man who, during a pre-anesthetic consultation for lumbar spinal stenosis surgery, presented with neurological symptoms, fatigue, and headaches. Examination revealed pallor, and laboratory tests indicated anemia and an elevated erythrocyte sedimentation rate. Serum protein electrophoresis identified a monoclonal IgM spike, and bone marrow aspiration showed significant infiltration by small lymphoid cells, lymphoplasmacytoid cells, and plasma cells. WM was confirmed, and the patient was treated with dexamethasone, rituximab, and cyclophosphamide, with positive follow-up progress. This case underscores the importance of considering WM in the differential diagnosis for patients with unexplained anemia and elevated IgM levels, highlighting the need for timely diagnosis and treatment to manage potential complications.

Survey of Emergency Department Clinicians on the Utility of the Guaiac Fecal Occult Blood Test.

Emergency department (ED) clinicians utilize the guaiac fecal occult blood test (gFOBT) in their assessment of suspected gastrointestinal bleeding or unexplained anemia despite supporting evidence. ED clinicians' ability to predict the gFOBT results and how the gFOBT results could affect ED patient disposition has not been previously studied. Methods: From October 16, 2019, through September 15, 2020, we conducted a single-site survey of ED clinicians before and after performing gFOBTs during routine clinical care. Survey data were collected and retrospectively evaluated with unadjusted and multivariable regression analyses. We examined a total of 133 combined pre-gFOBT and post-gFOBT surveys. ED clinicians accurately predicted gFOBT results with an area under the receiver operating characteristic curve of 0.75 (95%CI, 0.66-0.85). Of clinician-predicted certain or very probable positive gFOBT results, only 79% were actually positive. In multivariable analyses, decreased hematocrit level (odds ratio (OR), 0.31/10% increase; 95%CI, 0.14-0.61), decreased red blood cell count (OR, 0.41/1x1012/L increase; 95%CI, 0.21-0.75), and absence of firm stool consistency (OR, 0.09; 95%CI, 0.01-0.42) were associated with positive gFOBT results (allP<.006). The most common reason for performing gFOBTs was black stool or suspected melena, followed by decreased hemoglobin level, red blood in stool, and suspected upper gastrointestinal tract bleeding. Before performing gFOBT, 50.8% of clinicians responded that the test results would change patient disposition, which decreased to 30.5% after the gFOBT result. We found that ED clinicians cannot predict the gFOBT results with high accuracy. A suspected GI bleed is the main reason for performing the test in the ED.