Microcytic Hypochromic Anemia Research Articles

Teratoma of the pericardium revealed by seronegative polyarthritis: A case report

Introduction: Rheumatoid arthritis (RA) is an inflammatory, autoimmune disease with preferential involvement of the synovium in the proximal joints of the hands and feet. Formerly known as chronic progressive polyarthritis or chronic rheumatoid arthritis, its course is characterised by joint erosion and destruction. Coronary heart disease and strokes, the consequences of atheromatous disease, are part of rheumatoid arthritis and are responsible for the increased morbidity and mortality observed in this disease. Cardiac tumours in children are rare. The frequent use of echocardiography has helped to detect them earlier and with greater sensitivity. Most cardiac tumours in children are congenital, primary and benign. Most are discovered in children under one year of age. The aim of this study is to report the discovery of this type of tumour in a 10-year-old child being treated for seronegative polyarthritis. Observation: We report the observation of a 10-year-old girl, from a non-consanguineous marriage, with a history of systemic arthritis on difal 25mg *2/d + MTX 0.8mg/kg/week. Present since the age of 3 with recurrent arthralgias, admitted for polyarthralgias, fever with chest pain and whose examination found swelling, pain and limitation of passive and active movement of the left knee joint and elbow joint. Biological work-up revealed inflammatory microcytic hypochromic anaemia, normal ferritin, elevated CRP and ESR, ECBU, stool culture, ASLO serology, sputum BK, sputum TB PCR, Gene Xpert in sputum, Quantiiferon, SAM work-up and rheumatoid factors (RF) were negative, antinuclear antibodies (ANA) positive. EX. Ophthalmology and abdominal ultrasound normal, chest X-ray reveals cardiomegaly (ICT 0.6), X-ray of the spine + knee + elbow showed a discreet increase in the transparency of the bone structure. ETT found an oval mass measuring 20/25mm at the level of the junction between OD and VD not managing the reflux of the tricuspid valve and THORACIC CT in favour of a mass adherent to the pericardium evoking in the first instance a teratoma. Conclusion: Cardiac tumours in children are rare, and pericardial teratomas are often benign. In this study, we emphasise the importance of looking for underlying cardiac disease in the presence of recurrent episodes of arthralgia in children. Early positive diagnosis of the disease and the therapeutic implications are vital.

A novel discriminant algorithm for differential diagnosis of mild to moderate thalassemia and iron deficiency anemia.

Mild to moderate thalassemia trait (TT) and iron deficiency anemia (IDA) are the most common conditions of microcytic hypochromic anemia (MHA) and they exhibit highly similar clinical and laboratory features. It is sometimes difficult to make a differential diagnosis between TT and IDA in clinical practice. Therefore, a simple, effective, and reliable index is needed to discriminate between TT and IDA. Data of 598 patients (320 for TT and 278 for IDA) were enrolled and randomly assigned to training set (278 of 598, 70%) and validation set (320 of 598, 30%). Stepwise discriminant analysis was used to define the best diagnostic formula for the discrimination between TT and IDA in training set. The accuracy and diagnostic performance of formula was tested and verified by receiver operating characteristic (ROC) analysis in validation set and its diagnostic performance was compared with other published indices. A novel formula, Thalassemia and IDA Discrimination Index (TIDI) = -13.932 + 0.434 × RBC + 0.033 × Hb + 0.025 ×MCHC + 53.593 × RET%, was developed to discriminate TT from IDA. TIDI showed a high discrimination performance in ROC analysis, with the Area Under the Curve (AUC) = 0.936, Youden' s index = 78.7%, sensitivity = 89.5%, specificity = 89.2%, respectively. Furthermore, the formula index also obtained a good classification performance in distinguishing 5 common genotypes of TT from IDA (AUC from 0.854-0.987). The new, simple algorithm can be used as an effective and robust tool for the differential diagnosis of mild to moderate TT and IDA in Guangxi region, China.

Case Report: Ehrlichia ewingii Infection in a Shih Tzu Mix Dog

Ehrlichiosis is a dog disease caused by Ehrlichia, a gram-negative intracellular bacterium, and transmitted by ticks of the genus Rhipicephalus sanguineus. This case report aims to identify the infectious agent and describe the treatment for a case of ehrlichiosis. The examination results showed signs of ehrlichiosis in a male shih tzu mix dog aged three months. The dog had been suffering from itching, weakness, decreased appetite, and tick infestations over the entire body for the past month. The physical examination showed that the dog was limping and had pale oral mucosa. Meanwhile, the routine hematological examination showed signs of neutrophilia, hypochromic microcytic anemia, and thrombocytopenia. In addition, the blood smear examination showed intracytoplasmic bodies in the neutrophils of the dog. Blood tests using the test kit showed a positive result for ehrlichiosis. The dog was diagnosed with ehrlichiosis with a good prognosis. The treatment included doxycycline at a dose of 10 mg/kg BW q24h PO for 28 days, Livron B.plex at a dose of 1 tablet per day PO for 14 days, Fufang Ejiao Jiang at a dose of 1 ml per day PO for 14 days, and Bravecto Spot-on. The condition of the dog improved after seven days of treatment. However, the routine hematological examination on day seven still showed signs of anemia and thrombocytopenia, necessitating continued supportive drugs.

Gaucher disease: About an observation

Introduction: Gaucher disease is an inherited lysosomal storage disorder caused by defective discomfort. The consequence is the deficiency or complete absence of an important enzyme, β-glucocerebrosidase, which controls specific metabolic processes in the body.Characterized by hematological, visceral and bone lesions and classified into 3 types. The main objective of our study is to describe the diagnostic peculiarity of our patient with Gaucher Disease. Patient and Method: We report the observation of a child 6 years and 3 months old, history of prematurity, from a non-consanguineous marriage and a twin pregnancy. Since the age of 5 years, she has had arthralgia, bone pain and prolonged fever and whose examination found slightly discolored conjunctiva, arthralgia of the generals and a discreet splenomegaly.Laboratory assessment objectified hypochromic microcytic iron anemia, CRP and elevated ESR and imaging found enlargement of the distal metaphyses of both femurs on femur radio, slight homogeneous splenomegaly on the abdominal echo and cervico-thoraco-abdomino-pelvic CT scan found focus of condensation; Hepato-splenomegaly with a spleen containing fine calcifications; Isolated left ureteral dilation; Inhomogeneous bone pattern. B-Glucocerebrosidasa demonstrated low activity and genetic testing report was not detected for any pathogenic mutations. Conclusion: If the symptoms of the disease are detected early and a correct diagnosis is made, organ damage can be prevented or mitigated by adequate treatment.

Plummer–Vinson syndrome: a rare occurrence in paediatrics

BackgroundPlummer–Vinson syndrome (PVS) is characterized by a triad of symptoms consisting of microcytic hypochromic anaemia, oesophageal webs, and dysphagia. PVS is commonly found in women in the fourth and fifth decades of life and is rarely reported in the paediatric population.Case presentationWe report the case of a 1-year-old male South Asian child who presented with dysphagia and anaemia for 4 months and frequent episodes of vomiting after ingesting semisolid and solid food. A complete blood analysis revealed microcytic hypochromic anaemia. An oesophagogram revealed circumferential narrowing of the upper thoracic oesophagus. Based on these findings, our suspicion was that the patient had an oesophageal web and vascular ring. Oesophageal dilation was performed with a Savary-Gilliard dilator; initially, 5 mm and 7 mm probes were used, and final dilation with a 9 mm probe was performed.ConclusionAlthough rare in paediatric patients, a high suspicion of this syndrome is necessary in these patients to provide relief to the patient for better growth and development. Iron supplements increase the haemoglobin level but do not subside dysphagia, and oesophageal dilation is needed to open the blocked enteral pathway.

Ginkgo biloba attenuated detrimental inflammatory and oxidative events due to Trypanosoma brucei rhodesiense in mice treated with melarsoprol.

The severe late stage Human African Trypanosomiasis (HAT) caused by Trypanosoma brucei rhodesiense (T.b.r) is characterized by damage to the blood brain barrier, severe brain inflammation, oxidative stress and organ damage. Melarsoprol (MelB) is currently the only treatment available for this disease. MelB use is limited by its lethal neurotoxicity due to post-treatment reactive encephalopathy. This study sought to assess the potential of Ginkgo biloba (GB), a potent anti-inflammatory and antioxidant, to protect the integrity of the blood brain barrier and ameliorate detrimental inflammatory and oxidative events due to T.b.r in mice treated with MelB. Group one constituted the control; group two was infected with T.b.r; group three was infected with T.b.r and treated with 2.2 mg/kg melarsoprol for 10 days; group four was infected with T.b.r and administered with GB 80 mg/kg for 30 days; group five was given GB 80mg/kg for two weeks before infection with T.b.r, and continued thereafter and group six was infected with T.b.r, administered with GB and treated with MelB. Co-administration of MelB and GB improved the survival rate of infected mice. When administered separately, MelB and GB protected the integrity of the blood brain barrier and improved neurological function in infected mice. Furthermore, the administration of MelB and GB prevented T.b.r-induced microcytic hypochromic anaemia and thrombocytopenia, as well as T.b.r-driven downregulation of total WBCs. Glutathione analysis showed that co-administration of MelB and GB prevented T.b.r-induced oxidative stress in the brain, spleen, heart and lungs. Notably, GB averted peroxidation and oxidant damage by ameliorating T.b.r and MelB-driven elevation of malondialdehyde (MDA) in the brain, kidney and liver. In fact, the co-administered group for the liver, registered the lowest MDA levels for infected mice. T.b.r-driven elevation of serum TNF-α, IFN-γ, uric acid and urea was abrogated by MelB and GB. Co-administration of MelB and GB was most effective in stabilizing TNFα levels. GB attenuated T.b.r and MelB-driven up-regulation of nitrite. Utilization of GB as an adjuvant therapy may ameliorate detrimental effects caused by T.b.r infection and MelB toxicity during late stage HAT.

Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations

To investigate two cases of rare pathogenic genes, initiation codon mutations in HBA2 gene, combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T>C and HBA2:c.2delT mutations with clinical phenotype. The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis. Gap-PCR and reverse dot blotting (RDB) were used to detect common types of mutations in ɑ-thalassaemia gene. Sanger sequencing was used to analyze HBA1 and HBA2 gene sequence. Two proband genotypes were identified as --SEA/αα with HBA2:c.2T>C and --SEA/αα with HBA2:c.2delT. HBA2:c.2T>C/WT and HBA2:c.2delT/WT was detected in family members. They all presented with microcytic hypochromic anemia. When HBA2:c.2T>C and HBA2:c.2delT are heterozygous that can lead to static α-thalassemia phenotype, and when combined with mild α-thalassemia, they can lead to the clinical manifestations of hemoglobin H disease. This study provides a basis for genetic counseling.

Moyamoya Syndrome in a Child with Beta-Thalassemia Trait: A Case Report with Review of Literature

Background: The association of moyamoya angiopathy with hematological conditions such as sickle cell anemia and beta-thalassemia major or intermedia is well-known, but moyamoya syndrome (MMS) associated with thalassemia trait is hardly reported. We report such a rare association. Clinical Description: A 7-year-old boy presented with right-sided monoparesis with right-sided focal seizures, along with right-sided upper motor neuron type facial nerve palsy. He had a history of recurrent transient episodes of limb weakness, which were unevaluated. Examination revealed pallor and mild splenomegaly. Management and Outcome: Routine investigations revealed microcytic hypochromic anemia with normal serum iron levels. High-performance liquid chromatography was suggestive of beta-thalassemia trait. Contrast-enhanced computerized tomography of the head showed infarction in the territory of the left anterior cerebral artery (ACA) and middle cerebral artery (MCA). Magnetic resonance angiography revealed significantly attenuated bilateral internal carotid arteries in the supraclinoid region with attenuated bilateral ACA and bilateral MCA along with collateral formation suggestive of moyamoya angiopathy. The final diagnosis of MMS secondary to beta-thalassemia trait was made. The child improved with aspirin and supportive management. Conclusion: MMS can be rarely associated with the beta-thalassemia trait. Such an underlying, unsuspected heterozygous beta-thalassemia (trait) may be diagnosed only after the identification of moyamoya disease following a stroke.

Case report: Multiple autoimmune syndrome

This is a case of multiple autoimmune syndrome with the co-occurrence of vitiligo, pernicious anemia, celiac disease and autoimmune hepatitis is extremely rare. We are presenting a case is a 40-year-old woman with autoimmune hepatitis who is suffering from poor appetite, weight loss and skin lesions. Laboratory investigation shows hypochromic microcytic anemia, B12, and iron deficiency. The testing for parietal cell antibody was positive so pernicious anemia was diagnosed with positive Tissue transglutaminase antibody IgA so the diagnosis of celiac disease was confirmed.

Prevalence of microcytic hypochromic anemia and their assosiated risk factor among female students of Sarhad University Peshawar, Pakistan

Microcytic hypochromic anemia which is a type of blood condition in which the cells become paler and smaller than they should be and it is caused by many reasons that include nutritional deficiencies. Material and methods: It were a descriptive analytical and cross-sectional study conducted at Sarhad University Peshawar, Pakistan that included 50 females. This study was performed in the duration of four months. All the females who were pregnant students, those with prior diagnoses, and thalassemia-positive cases were excluded. Results: Within these 50 participants, the income groups were categorized showing a 35% prevalence of hypochromic microcytic anemia in the 40k-50k income group and 8.5% in the above 50k group. Stress groups showed a 20% prevalence of hypochromic microcytic anemia in those experiencing stress compared to 13.3% in the non-stress group, forming a basis for comparisons in our research analysis with 44 anemia-familiar participants and 6 non familiar participants. Conclusion: more anemia cases, specifically microcytic hypochromic anemia, were seen in higher-income families, especially those with incomes between 40k to 50k; Stress also seemed to play a role, as stressed students had a higher likelihood of having this type of anemia, highlighting the complex relationship between income, stress, and anemia prevalence.

General dermatology & dermatology in primary health care.

A woman in her late 50s presented with rapidly progressing, painful nodulo-ulcerative lesions on bilateral forearms that ulcerated and bled within two weeks of onset. She reported low-grade fever, productive cough, epistaxis, myalgias, and bilateral mixed hearing loss. Investigations revealed microcytic hypochromic anemia, elevated erythrocyte sedimentation rate, hematuria, and lobulated opacities in the chest. A skin biopsy showed dermal neutrophilic infiltration, vessel destruction, and granulomas, with negative stains for tuberculosis and absence of fungal elements.

Perbedaan Parameter Eritrosit Dan Retikulosit Pada Pasien Talasemia Beta Minor Dan Anemia Defisiensi Besi Ringan

Beta thalassemia and iron deficiency anemia (IDA) are most common microcytic hypochromic anemia. It is difficult to distinguish minor β thalassemia from mild iron deficiency anemia only by clinical findings and routine hematology examinations, it requires confirmatory tests which are limited in availability and relatively expensive. The presence of additional erythrocyte and reticulocyte parameters (RDW-CV, RBC-He, %MicroR, %Hypo-He, Ret-He, IRF) in hematology analysers are expected to be screening parameters in differentiating minor β thalassemia from mild IDA. The purpose of this study was to determine the differences in the values ​​of RDW-CV, RBC-He, %MicroR, %Hypo-He, Ret-He, and IRF between minor β thalassemia patients and mild IDA. This study was an observational, analytical, comparative, with a cross sectional design. Research was conducted at RSU Kota Tangerang Selatan from July to October 2020. Subjects were children who went to an outpatient clinic/medical check-up, or with laboratory data of minor β thalassemia or had β thalassemia families. Samples were analysed using Sysmex XN 1000. Statistical analysis was performed by the independent t test for normally distributed data and the Mann Whitney difference test for abnormally distributed data. The RBC-He and Ret-He values ​​were lower in minor β thalassemia than mild IDA and significantly different with p value 0.005 and 0.004, respectively. The %MicroR and %Hypo-He values were higher in minor β thalassemia than mild IDA and significantly different with p values ​ 0.000 and 0.003, respectively. The RDW-CV and IRF values ​​were higher in minor β thalassemia than mild IDA but were not significantly different with the p value 0.076 and 0.528 respectively. Conclusion: RBC-He and Ret-He values which reflect hemoglobin content in erythrocytes and reticulocytes ​​were lower in minor β thalassemia patients compared to mild IDA and were significantly different. The values ​​of %MicroR and %Hypo-He which reflect microcytic and hypochromic in erythrocyte population were higher in patients with minor β thalassemia than mild IDA and were significantly different. RDW-CV which reflects variation size of erythrocytes and IRF which reflects erythropoiesis activity and ineffective erythropoiesis were higher in patients with minor β thalassemia than mild IDA and were not significantly different.

Validity of Mentzer Index in Predicting Iron Deficiency Anaemia

Objective: To determine the diagnostic accuracy of the Mentzer index as a screening tool for iron deficiency anaemia, using an iron profile as the gold standard in patients presenting with hypochromic microcytic anaemia. Study Design: Cross-sectional study. Place and Duration of Study: Department of Pediatrics, Pak Emirates Military Hospital, Rawalpindi Pakistan, from Dec 2021 to May 2022. Methodology: Data was collected from 163 patients with hypochromic microcytic anaemia. Red cell indices were noted for each patient and recorded on a defined proforma. Results: The mean age of the patients was 8.23±3.57 years. 85(52.1%) patients were males and 78(47.9%) were females. Moreover, out of 163 patients, the specificity, sensitivity, negative predictive value, positive predictive value, and diagnostic accuracy of the Mentzer index for the diagnosis of iron deficiency anaemia were 90.1%, 90.1%, 84.6%, 93.8%, and 90.8%, respectively. Conclusion: The cell-count-based indices, especially the Mentzer index, are reliable and available methods for diagnosing iron deficiency anaemia. They have an accurate discrimination ability.

Haemoglobin lepore and beta thalassaemia traits – Prenatal testing by both sequence analysis and MLPA for HBB gene: A case report

Hb Lepore is a fusion globin protein made of fused chains of delta and beta globin. It is a deletion haemoglobinopathy. In homozygote form, it is similar to transfusion dependent beta thalassaemia major, and in the heterozygous form, it causes mild microcytic hypochromic anaemia. In this case report, the couple has heterozygous Hb Lepore and heterozygous beta thalassaemia, with a pregnancy of 15weeks gestation. Prenatal testing by amniocentesis and HBB gene analysis for the fetus was done by sequencing and MLPA to detect the different types of mutations present in the parents. This case report reveals the importance of MLPA to be done along with sanger sequencing, to detect all types of mutations in the HBB gene.

Validity of Erythrocyte Indices in Differentiation between Iron Deficiency Anemia and β-Thalassemia Trait in Children

Iron deficiency anemia (IDA) and β-thalassemia trait (BTT) are the most common causes of hypochromic microcytic anemia (HMA). Various erythrocyte indices that may help in the initial discrimination between IDA and BTT have been reported, but data evaluating their reliability in children are scarce. We aimed to evaluate the validity of 12 erythrocyte indices in the differentiation between IDA and BTT in children. These indices were red blood cell (RBC) count, Mentzer Index, England and Fraser Index, Srivastava Index, Shine and Lal Index, RBC distribution width (RDW), Ricerca Index, Green and King Index, RDW Index, Sirdah Index, Ehsani Index, and Serdar Index. Among 1,444 children with HMA, 136 (9.4%) were stratified into the IDA group and 137 (9.5%) into the BTT group. Of the 12 indices, the Green and King Index showed the highest reliability, as it had the highest Youden’s index (75.1%). Its sensitivity, specificity, positive predictive value, negative predictive value and correct diagnosis rate were 92.7%, 82.4%, 84.1%, 91.8% and 87.5%, respectively. The second most reliable index was the RDW Index, having a Youden’s index, sensitivity, specificity, positive predictive value, negative predictive value and correct diagnosis rate of 64.0%, 94.2%, 69.9%, 75.9%, 92.2% and 82.0%, respectively. Receiver operating characteristic analysis showed that the revised cut-off values for the Green and King Index and RDW Index had higher sensitivity and specificity levels than the cut-off values commonly used in the literature. The findings of this study suggest the superiority of the Green and King Index and the RDW Index as screening tools in the initial differentiation between IDA and BTT among children with HMA.

Diagnosis and treatment of Ehrlichiosis in a Pug dog

In addition to damaging the skin and causing inflammatory reactions and anemia, dog tick infestations are vectors for blood parasites such as Ehrlichia spp., known as Ehrlichiosis. This article reports the case of a five-year-old female Pug dog whose body was covered with ticks. The clinical examination found tick infestation on the face, ears, back, abdomen, legs, and interdigital areas. Supporting examinations included a complete blood count (CBC), buffy coat smear, and a test kit. CBC examination showed that the dog had leukocytosis, neutrophilia, hypochromic microcytic anemia, and thrombocytopenia. A buffy coat smear examination showed the presence of Ehrlichia morulae in the cytoplasm of the dog's monocytes, and the test kit results were positive for Ehrlichia antibodies; therefore, the dog was diagnosed with Ehrlichiosis. Treatment is done by administering Doxycycline, Intervetta Dr. Choice Ferro-B, and Fu Fang Ejiao Jiang orally for 21 days. After treatment, hematological parameters in leukocytes, neutrophils, erythrocytes, and platelets returned to normal ranges.

Diagnostic Utility of Reticulocyte Hemoglobin Equivalent Parameter in the Evaluation of Microcytic Hypochromic Anemia – Our Experience from Northeast India

Background: Reticulocytes are red blood cell precursors with an average lifespan of 1–2 days. Reticulocyte hemoglobin equivalent (Ret-He) is an early marker of iron deficiency (ID) erythropoiesis and reflects real-time information regarding the synthesis of young erythrocytes in the bone marrow. The objective of this study is to determine the diagnostic utility of Ret-He in patients having microcytic hypochromic anemia in comparison with serum ferritin and iron studies. Objectives: The objective of this study is to determine the diagnostic utility of the Ret-He parameter in patients having microcytic hypochromic anemia in comparison with the serum ferritin, iron studies and its role in routine hematological screening for nutritional deficiency anemia like ID. Design and Settings: The design involves observational study. Materials and Methods: A hospital-based observational study was carried out in a referral hospital. Hematological parameters were processed using Sysmex XN1000 (Sysmex Corporation, Kobe, Japan) analyzer and were compared with Serum iron studies using biochemistry analyzer (VITROS® 250 Chemistry System) from 201 participants who presented with microcytic hypochromic anemia. Main Outcome and Measures: Relationship of Ret-He parameter and its diagnostic utility for screening of iron-deficient states. Sample Size: The sample size was 201. Results: When serum ferritin is taken as “the gold standard” to detect ID, with Ret-He cutoff of 27.15 pg/cell, we found a statistically significant positive correlation between Ret-He and serum ferritin (P < 0.001). We found a sensitivity of 57.37% and specificity of 75.95% with area under the curve of 0.681, positive predictive value of 100%, negative predictive value of 3.8%, and accuracy of 62.19% for Ret-He in detecting ID anemia (IDA). Also found a statistically significant negative correlation between Ret-He and total iron binding capacity (P < 0.001). There was no statistical correlation between Ret-He and serum iron levels in our study. Conclusions: The present study suggests Ret-He is one of the better and more reliable hematological parameters indicating ID and, when used along with biochemical parameters like serum ferritin, can give valuable inputs in a better screening and diagnosis of IDA; hence proper treatment is possible. Limitations: The multicentric study is required to standardize Ret-He reference values, and follow-up to therapy of the subjects was not done. Additional hemoglobin variant analysis data would have been favorable to the study.

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

β-Thalassaemia is the most common genetic disorder and is considered as a major public health concern in Iran. Different countrywide studies have shown a heterogeneous mutational basis of β-thalassaemia with different frequencies in each area. This study is aimed at investigating the common and rare mutations in Mazandaran and Golestan, northern provinces of Iran. 5425 microcytic and hypochromic individuals were investigated from Mazandaran and Golestan provinces. From these, 1323 beta carrier or affected individuals were selected where 938 persons were from Mazandaran and 385 people were from Golestan province, respectively. 53 different mutations were identified, IVSII-1 (G>A) was the most common (59.14%) followed by Cd 22/23/24 (-7 bp) (5.34%), Cd 8 (-AA) (4.93%), Cd30 (G>A) (4.00%), and IVSI-5 (G>C) (3.70%) with a total of 77.11% in Mazandaran Province, respectively. In Golestan Province, IVSI-5 (G>C) was the most frequent (44.62%) followed by IVSII-1 (G>A) (27.18%), Cd 15 (TGG>TAG) (4.36%), Fr 8/9(+G) (3.85%), and Cd 8(-AA) (2.05%) with a total of 82.06%, respectively. From the 53 different mutations, 22 numbers have been observed in both provinces. Two deletions of the beta gene named Sicilian and Asian-Indian have been detected in Mazandaran with a frequency of 0.72% each. The 53 different mutations identified in this study were the most ever reported mutations in the country. Due to diversity of different ethnic groups, there are many varieties of mutation in beta globin gene in Iran. It could be assumed that both founder effect and natural selection caused by migration from neighboring areas have complemented each other to produce the high frequency of unique alleles within each region.

Comparative analysis and predictive modeling of hematologic β-thalassemia minor in Pakistan: a cross-sectional study from 2019-2021

Background: Hypo chromic microcytic anemia happens to be the commonest form of anemia in Pakistan. Iron deficiency anemia (IDA) and Beta Thalassemia Trait (BTT) are its most common causes. Both are having similar clinical and laboratory findings. It is necessary to establish relevant cost-effective screening methods based on blood complete picture (CP) to predict BTT in order to reduce burden of Beta Thalassemia Major in Pakistani population.
 Methods: A cross sectional study was conducted from 2019 to 2021. 10,739 BTT or IDA suspected subjects were recruited. Blood CP was done for each patient to analyze different red cell parameters like total red blood cell count (TRBC), hemoglobin (Hb), mean cell volume (MCV), mean cell hemoglobin(MCH), mean cell hemoglobin concentration(MCHC) and red cell distribution width(RDW). For serum ferritin level, serum was collected after centrifugation and analyzed by using Abbott Alinity chemistry analyzer.
 Results: 1044 individuals had BTT and 270 were diagnosed as having IDA. Their RBC indices were analyzed using 25 formulae to differentiate between both conditions. Matos and Carvalho index and Pornprasert discriminative index appeared to be the most reliable indices with sensitivity, specificity, positive and negative predictive values, more than 98%.
 Conclusion: By utilizing Matos and Carvalho index and Pornprasert index, we can cost effectively screen huge population for BTT

DIAGNOSTIC ACCURACY OF MENTZER INDEX AS A SCREENING TOOL FOR THE DIAGNOSIS OF IRON DEFICIENCY ANEMIA BY TAKING IRON PROFILE AS GOLD STANDARD IN PATIENTS PRESENTING WITH HYPOCHROMIC MICROCYTIC ANEMIA AT TERTIARY CARE HOSPITAL, KARACHI

Anemia is the most prevalent haematological condition in newborns and children. A deficiency of iron necessary for synthesizing haemoglobin causes it. This study used the iron profile as the gold standard for patients with hypochromic microcytic anemia at a tertiary care hospital in Karachi to assess the Mentzer index's diagnostic accuracy for iron-deficient anemia. From January 2021 to December 2022, a cross-sectional descriptive study was conducted in the Department of Pediatrics, NICH, Karachi. With the patient's explicit consent, data was prospectively collected. Those who satisfied the diagnostic requirements totaled 163 patients. While frequency and percentages were used to represent qualitative factors, simple descriptive statistics with mean and standard deviation were used to convey quantitative data. The following metrics were calculated: diagnostic accuracy, sensitivity, specificity, positive and negative predictive values, and a significance level set at p-value ≤0.05. A total of 163 patients with hypochromic microcytic anemia were included in the study; their mean age was 8.23±3.57 years. 78 (47.9 percent) and 85 (52.1 percent) were female. For the diagnosis of iron deficiency anemia, the Mentzer index's sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy were determined to be, respectively, 90.1 percent, 90.1 percent, 93.8 percent, 84.6 percent, and 90.8 percent. According to the study's findings, cell-count-based indices—in particular, the Mentzer index—are trustworthy, widely accessible techniques that have a high degree of discrimination power for identifying iron deficiency anemia.