Thalassemia Trait Research Articles

HAEMATOLOGICAL PROFILE AND MENTZER INDEX IN PEDIATRIC PATIENTS PRESENTING WITH ANEMIA

Objective: The objective of this study was to analyze clinical and hematological profile of children with anemia and determine the Mentzer index of all cases presenting with anemia. Methods: This was a cross-sectional observational study conducted in the Department of pediatrics of a tertiary care medical college. Eighty pediatric age group patients diagnosed to be having anemia on clinical examination were included in this study. Demographic details such as age and gender were noted in all cases. A through history was obtained and a clinical examination was done. Presenting complaints were also noted. Complete blood count with peripheral blood smear examination was done in all cases. The Mentzer index was determined from complete blood count reports. Results: Out of 80 studied cases, there were 57 (71.25%) boys and 23 (28.75%) girls. The mean age for boys was 9.12±3.14 years and for girls, it was slightly higher at 10.24±3.46 years. Fatigue (73.75%), pallor (71.25%), and anorexia (56.25%) were common complaints. About 55% had mild anemia 22.5% had moderate anemia and 22.5% suffered from severe. Mean hemoglobin concentration of studied cases was found to be 8.42±3.98 g/dL. The most prevalent blood picture was the normocytic normochromic blood picture, representing 60% of cases. Mentzer index ranged from a minimum of 10.83 to a maximum of 27.76, with the mean value being 17.40±2.92. Notably, the vast majority of patients (97.5%) had a Mentzer Index >13, suggesting a high prevalence of iron deficiency. Conversely, only 2.5% of the patients had a Mentzer Index at or below 13, indicating a much smaller subset in whom Hb electrophoresis was needed to rule out thalassemia trait. Conclusion: Although most of the children with anemia are secondary to iron deficiency Mentzer index should be determined in all patients of anemia so as to avoid inadvertently prescribing iron supplementation in cases of thalassemia trait.

Survival of transfused red blood cells from a donor with alpha-thalassemia trait in a recipient with sickle cell disease.

Post-transfusion survival of donor red blood cells (RBCs) is important for effective chronic transfusion therapy in conditions including sickle cell disease (SCD). Biotin labeling RBCs allows direct in vivo measurement of multiple donor RBC units simultaneously post-transfusion. In an observational trial of patients with SCD receiving monthly chronic transfusion therapy, aliquots of RBCs from one transfusion episode were biotin-labeled and infused along with the unlabeled RBC units. Serial blood samples were obtained to measure RBC survival. Donor units were tested for RBC indices, hemoglobin fractionation, and glucose-6-phosphate dehydrogenase (G6PD) enzyme activity. For microcytic donor RBCs (MCV < 70 fL), HBA1 and HBA2 genetic testing was performed on whole blood. We present one recipient, a pediatric patient with SCD and splenectomy who received two RBC units with aliquots from each unit labeled at distinct biotin densities (2 and 18 μg/mL biotin). One donor unit was identified to have microcytosis (MCV 68.5 fL after biotinylation); whole blood sample obtained at a subsequent donation showed 2-gene deletion alpha-thalassemia trait (ɑ-3.7kb/ɑ-3.7kb) and normal serum ferritin. G6PD activity was >60% of normal mean for both. The RBCs with alpha-thalassemia RBC had accelerated clearance and increased surface phosphatidylserine post-transfusion, as compared with the normocytic RBC (half life 65 vs. 86 days, respectively). Post-transfusion RBC survival may be lower for units from donors with alpha-thalassemia trait, although the impact of thalassemia trait donors on transfusion efficacy requires further study.

Red Cell Parameters in Beta Thalassemia Trait; Comparison between Iron Deficient and Non-Deficient Carriers

Objective: To compare hematological parameters in iron-deficient and non-deficient carriers of beta thalassemia trait. Study Design And Setting: Comparative cross-sectional study. This study was conducted at the Department of Hematology at PNS SHIFA Hospital, Karachi for six months (February 2023 to July 2023). Methodology: This comparative cross-sectional study included a total of 304 cases with beta thalassemia trait and was divided into two groups; the Iron-deficient (ID+) and iron-deficient (ID-) group. The study focused on red cell parameters i.e, Hemoglobin (Hb), TRBC, MCV, MCH and RDW. Haemoglobin Electrophoresis results of both groups were also compared. Descriptive statistics were expressed as mean ± SD and the Chi-square test was assigned. A p-value = 0.05 was considered statistically significant. Results: Out of the total 304 subjects, 76 (25.0%) had iron deficiency, and 228 (75.0) had sufficient iron stores. Mean age of patients was 18 (Range: 3 – 35) years. HbA levels were similar in both the groups with p-value &gt; 0.05. While all other parameters compared showed marked differences among the two groups and were found to be statistically significant. Hb, TRBC, MCV MCH showed lower values in the ID+ group while RDW was lower in the ID- group. Conclusion: Red Cell parameters and HBA2 levels in beta thalassemia trait vary significantly among the iron deficient vs non-deficient group. Hence due consideration is needed in screening of beta thalassemia trait in patients with iron deficiency anemia.

Screening of voluntary blood donors for beta-thalassemia trait in an endemic area in Northwest India for 15 years: Results and future directions after screening more than 300 thousand donors

Abstract: BACKGROUND: North-West India has a high prevalence of the Thalassemia, and the Beta Thalassemia Trait often remains undetected in the population. Recognizing the need to address this public health issue, we initiated “Blood the Lifeline” project in 2006 with the aim to eradicate Thalassemia through proactive measures, including screening of voluntary blood donors. AIM: The primary aim of this study was to screen voluntary blood donors in an endemic area in northwestern India for Thalassemia trait. The study aimed to determine its prevalence, identify gender and ethnic group-wise distributions, and assess the implications for future interventions. METHODS: The screening program was conducted from January 2006 till December 2022. Voluntary blood donors were recruited from the target area and underwent Thalassemia trait screening. The screening process involved High Performance Liquid Chromatography using VARIANT II fully automated HPLC system to identify Thalassemia trait. Data regarding the total number of cases screened, gender distribution, ethnic group-wise distribution, and positive and negative cases were collected and analyzed. Screening Process: EDTA Pilot tube from each donor was collected and analyzed within 24 hrs of collection. RBC Counts, Hb Concentration, MCV, MCH, RDW-SD were noted to differentiate between Iron Deficiency Anaemia &amp; thalassemia trait &amp; following Criteria’s were taken into account: Total RBC Count: &gt; 5.0 x 106 / micro-liter, Hb: &lt; 11.7 g/dl, MCV: &lt; 77 fl, MCH: &lt; 28 pg &amp; RDW-SD: &lt; 45 fl. A combination of Formulas like Mentzer’s index= MCV/RBC &lt;13; Shine and Lal Index (S&amp;L) = MCV × (MCH/100) &lt; 1530; Green &amp; King (MCV2) × RDW]/ (Hb × 100) &lt; 65 were used for screening. All the above formulas were introduced into the Blood Bank Software to exclude out the blood units requiring screening &amp; confirmation. If any of the samples were positive on initial screening, then confirmatory test was done by demonstrating the elevation of concentration of HbA2 by HPLC VARIANT II fully automated analyser. RESULTS: A total of 377,503 voluntary blood donors for a 16 year period were screened and data was analysed .The Mean Hemoglobin of positive donors was 12.1 gm/dl; Mean RBC Count was 6.24 m/cu mm, MCV 67.79 fl, MCH 21.04 pg, RDW-SD 42.11fl &amp; HbA2 was 7.48%. The majority of positive cases were found in the Sindhi (16.68%), Punjabi (10.32%), and Muslim (9.81%) ethnic groups. The Rajasthani population accounted for 6.01% of positive cases. CONCLUSION: This comprehensive screening program revealed a relatively high prevalence of Thalassemia trait in 2.29% of the screened population. The communities with higher prevalence (Sindhi, Punjabi, and Muslim) were educated about the disease and a targeted screening program will be further carried out in these ethnic groups. The data helped in planning genetic counseling, carrier screening, and pre-marital screening programs to reduce the transmission of Thalassemia in these populations. By focusing efforts on specific groups and locations with higher prevalence, a community based approach to prevent the birth of children with Thalassemia major is being implemented. It is also being used for analyzing the implications of different local policies pertaining to Thalassemia trait in the region. Collaborative efforts between healthcare organizations, community leaders, and governmental agencies are crucial to address the burden of Thalassemia and work towards its eradication. The results of this study serve as a foundation for future initiatives aimed at minimizing the impact of Thalassemia at a community level.

Family Support in Premarital Screening: Efforts to Prevent Thalassemia

Thalassemia is an inherited disorder syndrome and is included in the hemoglobinopathy group, which is a disorder caused by impaired hemoglobin csynthesis due to mutations in or near globin genes. Thalassemia disease has no cure, so early prevention is more important than treatment. The World Health Organization recommends two ways of prevention, namely pregnancy screening and population screening to look for carriers of thalassemia traits. This study aims to determine the relationship between family support and premarital screening decision-making in thalassemia adolescents at Banyumas Regional General Hospital. The method used is quantitative descriptive. This study is a correlation study with a cross-sectional design. The sample in this study was thalassemia adolescents with an age range of 12 to 21 years in the thalassemia room of Banyumas Regional General Hospital as many as 75 people. This study used a sampling technique, namely purposive sampling. The research instrument used family support questionnaires and decision-making. The data were analyzed using the Chi-Square test. Univariate test results found that most respondents had high family support as many as 52 people (69.3%), and most respondents decided to conduct premarital screening as many as 54 people (72.0%). The results of the bivariate test obtained a relationship between family support and premarital screening decision-making in thalassemia adolescents in the thalassemia room of Banyumas Regional General Hospital (p-value 0.047). Family support can also be an influential factor in determining an individual's beliefs and decisions. The higher the family support, the more supportive the thalassemia adolescent to make premarital screening decisions.

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.

Frequency of anemia in individuals with beta-thalassemia trait.

Objective: To determine the frequency of anemia in carriers of Beta thalassemia Study Design: Retrospective Observational study. Setting: PAEC General Hospital, Islamabad, Pakistan. Period: 1st January 2022 to 30th June 2022. Methods: In this descriptive study, 131 carriers of Beta-thalassemia trait, diagnosed by hemoglobin electrophoresis on cellulose acetate membrane at alkaline pH, of any age and both genders were included. Complete blood counts were performed by hematology analyzer of Sysmex XN-1000 to determine hemoglobin level and red blood cell indices i.e. mean corpuscular volume. The studied parameters included hemoglobin and mean corpuscular volume as quantitative variables. Severity and type of anemia were the qualitative variables of this study and were expressed in terms of frequency and percentages. SPSS 19 version software was used for data analysis. Results: 131 carriers of Beta-thalassemia traits were included in study. 58 (44.27%) were males while 73 (55.73%) were females, male to female ratio being 1: 1.3. Of 131 beta thalassemia traits 67 (51.15%) were found to be anemic while 64 (48.85%) had normal hemoglobin for given age and gender. The mean corpuscular volume of anemic and non-anemics was 59.54+5.82 fl and 63.70+6.95 fl respectively. Mean hemoglobin level of anemic Beta-thalassemia traits was 9.42+1.05 g/dl while non-anemic patients was 12.12+1.39 g/dl. Conclusion: Burden of anemia among carriers of Beta-thalassemia traits is high. Understanding the prevalence of anemia in individuals with the trait is crucial for optimizing healthcare interventions and improving the quality of life for affected individuals.

Spectrum of Hemoglobinopathies in Tertiary Care Hospitals of Rawalpindi and Islamabad

Hemoglobinopathies, including Thalassemia and sickle-cell syndromes are lifelong diseases with a significant impact on patients, families, and healthcare resources. Despite therapeutic progress, Pakistan, located within the Thalassemia belt, lacks comprehensive data on the epidemiology, clinical course, mortality, complications, and treatment outcomes of Thalassemia. Objective: To determine the frequency of haemoglobinopathies in Tertiary Care Hospital of Rawalpindi and Islamabad. Methods: A retrospective cross-sectional study of 7 months was conducted on the local population of Islamabad and Rawalpindi from January 2020 to July 2020. Total 600 patients referred for Hb electrophoresis were initially selected for study. Data from 300 patients were collected from PIMS Hospital, Islamabad, and 300 from Holy Family Hospital, Rawalpindi. Clinical information for each patient was recorded separately, data were statistically analyzed using Microsoft Excel version 2016 and graphs were made on GraphPad Prism version 08. Results: Out of 600 patients from Rawalpindi and Islamabad 227 (37.84%) patients were found to have hemoglobinopathies. Beta Thalassemia trait was the most common disorder among those with hemoglobinopathies (47.13%), followed by beta Thalassemia major (23.34%), sickle Beta Thalassemia (10.57%), sickle cell disease (6.6%), Hb D trait (5.28%), Hb D/beta Thalassemia (3.96%), Hb E trait (2.2%), and sickle cell trait (0.88%). Conclusions: The study showed a significantly high frequency of hemoglobinopathies in the capital city Islamabad and Rawalpindi. β- Thalassemia trait and β- Thalassemia major were found in high frequency among various hemoglobin disorders.

Hemoglobin Variants in Patients Attending Aden Diagnostic Center by High Performance Liquid Chromatography

Introduction: High performance liquid chromatography (HPLC) is emerging as the method of choice for initial screening and diagnosis of hemoglobinopathies. The use of alkaline and acid gel electrophoresis may result in incorrect diagnosis of hemoglobinopathies. The aim of the study is to investigate the hemoglobin pattern using the HPLC and to correlate the hematological profile with the types of hemoglobin. Methods: A cross-sectional study was conducted in Aden Diagnostic Center from July– December 2022. Over a six-month period, 250 samples of patients aged between six months to thirty years, were evaluated by HPLC for detection of hemoglobinopathies using the Lifotronic Hemoglobin Analyzer H9: β-thalassemia Analysis Mode. Red blood cell and red cell indices were determined using automated hematology analyzer. Results: A total of 152 samples (60.8%) showed different abnormal hemoglobin variants. Sixty-four (25.6%) were diagnosed to have sickle cell anemia, 46 (18.4%) as sickle cell trait, two (0.8) as beta – heterozygous thalassemia based on high level of HbA2 (&gt;3.9%), four (1.6%) as beta – homozygous thalassemia (HbF 25–91%), 18 (7.2%) as compound heterozygous state of sickle - β+ thalassemia, 17 (6.8%) as beta thalassemia trait, and one (0.4%) sample had HbD variant on HPLC was diagnosed as HbD trait. Conclusion: H9-HPLC is suitable for the routine investigation of hemoglobinopatheis because it is very powerful tool in the evaluation of Hb variants, rapid assay time and accurate quantification.

Peripheral Blood Film Patterns in Thalassemia and Hemoglobinopathy Carrier

Thalassemia and hemoglobinopthies are the commonest genetic disorders of hemoglobin. The disease has autosomal recessive pattern of inheritance. Screening of thalassemia and hemoglobinopathy carriers is a burning issue to prevent new cases. Thalassemia and hemoglobinopathies can be prevented by genetic testing followed by genetic counseling, if we can detect carriers of thalassemia or hemoglobinopathies by an easy method. The objective of this study was to see the peripheral blood film pattern among the carriers of thalassemia and hemoglobinopathies. It was a cross-sectional study conducted from September 2015 to November 2015. A total of 437 random specimens were collected from three tribal groups. Two mL of venous blood were collected in EDTA tube. Hemoglobin variants were studied by HPLC method using Variant Hemoglobin Testing System (Variant II Beta Thalassemia Short Program). Statistical analysis was carried out using SPSS statistical package (version 23.0). Data were analyzed by frequency distribution. In this study, total 437 respondents were examined for blood test. Male to female ratio was 1:1. The study included cases from 2 years to 82 years where mean age was 18.3±12.0 years. In clinical analysis, Hb ranged from 8.5 to 19.0 gm/dL and 187 cases were found normochromic, 110 cases anisochromic 140 cases hypochromic. Among them, 38.2% were normal individuals, Hb E Trait were 34.8%, Hemoglobin E disease were 21.7% and Beta Thalassemia trait were 5.3%.Peripheral blood film and hemoglobin status may give an idea about thalassaemia and hemoglbinopathy trait or carrier. In the suspected cases, High Performance Liquid Chromatography (HPLC) may be done to confirm the diagnosis.&#x0D; Bangladesh J Med Biochem 2019; 12(2): 23-30

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.

Mandibular changes in a patient suspected with Thalassemia trait: A case report by radiograph finding

Thalassemia is an inherited hemolytic anemia characterized by abnormal synthesis the hemoglobin globin component. A forty-year-old woman presented to a private dentist complaining of a left-sided facial pain and headache that occurred out of the blue. Panoramic radiograph showed severe caries on several teeth, generalized reduction in the alveolar crest, thin lamina dura and changes in trabecular pattern of mandible and the inferior alveolar canal on each side was partially absent. Unmanaged anemia caused ineffective erythropoiesis resulting extensive bone marrow with sparse coarse trabecular. As the mean hemoglobin falls, enhanced osteoclastic bone resorption thus thinning lamina dura, reducing alveolar crest and lacking radiopaque line of inferior alveolar canal. Panoramic is widely used in dentistry, this case report presents a case of patient discovered thalassemia through radiological findings.

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.&#x0D; 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.&#x0D; 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%.&#x0D; Conclusion: By utilizing Matos and Carvalho index and Pornprasert index, we can cost effectively screen huge population for BTT

Effect of Beta Thalassemia Trait in Pregnancy

A cross-sectional, observational study was conducted to determine the effects of beta thalassemia trait in pregnancy. A total of 150 pregnant women diagnosed with beta thalassemia trait in Bangladesh Navy Ship (BNS) Patenga Hospital, at Chattogram, Bangladesh, having regular antenatal care and delivery, between January and December of 2022, were included in the study. Thalassemia status was diagnosed by Hb-electrophoresis. Most of the patients belonged to the age group 19-35 years. 30.46% of women had normal hematocrit level. During pregnancy women suffered from severe anemia (14%) and mild anemia (55.33%) (P&lt;0.001). Blood transfusion needed during 1st trimester (1.3%), 2nd trimester (4.6%), 3rd trimester (8%) and at postpartum period (9.3%) (P&gt;0.05). Most of the women (76.66%) delivered babies at her 36-39 weeks of gestational age,18.67% delivered at or after 40 weeks of gestation and 4.67% delivered baby before 36 weeks (P&lt;0.05). 66.67% had normal vaginal delivery, while 33.33% underwent Caesarean section operation due to several complications. Observed obstetric complications were: pregnancy induced hypertension (6.6%), gestational diabetes (4%), oligohydramnios (11.33%, premature rupture membrane (3.3%), preterm labor (8.66%), and placental abruption (1.33%). Adverse fetal outcomes observed were: prematurity (4.6%), intrauterine growth retardation (5.33%), still birth (0.6%), and fetal asphyxia (3.33%). Neonatal admission at NICU was needed in 2(1.33%) cases. CBMJ 2024 January: vol. 13 no. 01 P: 77-82

Study on Spectrum of Hemoglobinopathies in A Tertiary Care Hospital in Haryana, India

Background: Hemoglobinopathies are the most common inherited disorders and are major public health problem in many parts of the world. According to WHO, 5% of the world population is carrier for hemoglobinopathies. High Performance Liquid Chromatography (HPLC) is a sensitive, specific and rapid method aiding in detection of hemoglobinopathies.Objective: To evaluate the spectrum of various hemoglobinopathies by using HPLC in a rural tertiary care hospital in Haryana, India.Methods: This prospective study was conducted for detection of hemoglobinopathies using BioRad D-10 for patients visiting various OPDs in Bhagat Phool Singh Government Medical College for Women, Haryana, India.Results: A total of 160 patients were included in the study. 25 (15.6%) cases were detected to have hemoglobinopathies. Most common hemoglobinopathy was beta thalassemia trait found in 9 cases (36%) followed by beta thalassemia major in 4 cases (16%), Hemoglobin D Punjab heterozygous in 3 cases (12%), Hemoglobin E heterozygous in 2 cases (8%).Conclusion: Our study provides an overview on the spectrum of hemoglobinopathies in Haryana region of India. Hemoglobinopathies pose considerable economic and psychosocial burden on the affected individuals, society, and the country. It is concluded that HPLC is a versatile, reproducible technique for the estimation of hemoglobinopathies.International Journal of Human and Health Sciences Vol. 08 No. 01 Jan’24 Page: 49-55

A Novel Discriminating Tool for Microcytic Anemia in Childhood.

Accurate and timely interpretation of microcytic anemia can be diagnostically challenging in the primary care setting. We sought to develop a novel model for distinguishing iron-deficiency anemia from thalassemia trait in the modern pediatric population. Demographic history and red blood cell indices were retrospectively characterized for 76 children referred to our pediatric hematology clinic for evaluation of microcytic anemia. Statistically significant variables were sequentially added into a logistic regression model to develop the final model. The final discriminating model incorporates red cell distribution width, mean corpuscular hemoglobin concentration, and red blood cell values. Favorable predictive performance is seen in the initial (sensitivity 89.2%, specificity 92.3%) and external validation cohort (sensitivity 84.4%, specificity 88.9%). This novel tool may aid in determining the cause of hypochromic, microcytic anemia in the primary care setting. Finally, the study cohort reflects an underrepresented group in the development of screening tools, and thus offers generalizability.

Diagnostic test performance of the Mentzer index in evaluating Saudi children with microcytosis.

Anemia is a global public health concern, affecting both developing and industrialized countries at a rate of 39.8%. It is defined by low hemoglobin concentration, and anemia varies in severity based on age: <11 g/dL (6-59 months), <11.5 g/dL (5-11 years), and < 12 g/dL (12-14 years). This study evaluates the Mentzer index's reliability in differentiating iron deficiency anemia from the thalassemia trait. A total of 434 children (≤16 years) with hemoglobin electrophoresis previously screened for microcytosis (MCV <80 FL) and an iron profile were included. Children with other hematological conditions were excluded. Out of 434 children, 181 were diagnosed with thalassemia, and 345 had iron deficiency anemia. The Mentzer index showed 74% sensitivity and 63% specificity for the beta-thalassemia trait, with 61% sensitivity and 36% specificity for iron deficiency anemia. The beta-thalassemia trait group had the highest negative predictive value (98%), while iron deficiency anemia had the highest positive predictive value (79%). Our study, which is consistent with previous literature, suggests that the Mentzer index is not highly reliable in distinguishing iron deficiency anemia from the thalassemia trait among children in Saudi Arabia.

Evaluation of a point-of-care rapid diagnostic test kit (SICKLECHECK) for screening of sickle cell diseases.

Sickle cell diseases (SCD) are the most common genetic disorders with significant morbidity and mortality worldwide, including in India. The high prevalence of this disorder in many geographical regions calls for the use of a point-of-care rapid diagnostic test (RDT) for early screening and management of the diagnosed cases to reduce the allied clinical severity. In view of this, the present study was undertaken for the validation of a point-of-care RDT kit (SICKLECHECKTM) for the screening of SCD. This validation and diagnostic accuracy study was conducted among the cases advised for screening of SCD. For validation, all the recruited cases were investigated for both the SICKLECHECKTM RDT kit and HPLC (Variant-II) considering HPLC as a gold standard. A total of 400 cases were screened for both tests. For the presence and absence of sickle cell hemoglobin in the samples, SICKLECHECKTM RDT kit results showed a sensitivity and specificity of 99.39% and 98.73% respectively with references to HPLC findings. For the detection of the 'AS' pattern, the SICKLECHECKTM RDT kit has shown a sensitivity and specificity of 99.07% and 98.81% respectively. For the detection of the 'SS' pattern, the SICKLECHECKTM RDT kit has shown a sensitivity and specificity of 97.92% and 100.0% respectively. Cases with β thalassemia trait, hemoglobin E trait, hemoglobin Lepore trait and trait for hereditary-persistence-of-fetal-hemoglobin (high HbF %) diagnosed in HPLC were resulted with 'AA' pattern in SICKLECHECKTM RDT kit. The high sensitivity and specificity of the SICKLECHECKTM RDT kit insist on its use as a point-of-care screening tool for SCD especially where there is a lack of laboratory facilities as well as in hospital-based set-up requiring immediate diagnosis and management of SCD. However, for further confirmation, the samples should be analyzed with other gold standard techniques like HPLC.

DETERMINING THE DIAGNOSTIC ACCURACY OF RED CELL DISTRIBUTION WIDTH (RDW) IN THE DIFFERENTIAL DIAGNOSIS OF IRON DEFICIENCY ANEMIA (IDA) AND NON TRANSFUSION-DEPENDENT BETA THALASSEMIA (BTT).

BACKGROUND: Hypochromic microcytic Anaemia comprises the major chunk of red blood-related disorders in our part of the world. Iron deficiency and beta-thalassemia are the most common hypochromic/microcytic Anemia . Red cell distribution width (RDW) is a credible marker of variation in red cell size (Anisocytosis). RDW is usually elevated in IDA due to variations in the size of erythrocytes while it is normal in the beta-thalassemia trait. Therefore, it is of considerable significance in the detection of IDA in clinical conditions, where Iron studies and other specialized investigations cannot be undertaken due to the reason of resource constrains. AIM: The study aims to detect the sensitivity and specificity of RDW in iron deficiency anemia (IDA) and beta thalassemia trait (TT). Hence, RDW is cost-effective and a reliable parameter in detecting IDA in the absence of many other diagnostic choices. METHODS: The study was conducted at Chughtai Institute of Pathology (CIP) Lahore from September 2019 –November 2019. It was a Cross-sectional Prospective study including 115 patients and dividing them into two main groups. Group 1 included patients of IDA. Group 2 included patients with beta Thalassemia trait having Haemoglobin A2 values of &gt;3.5 diagnosed on Capillary Haemoglobin Electrophoresis. RESULTS: The overall age of patients was 28.5±9.5 years and 30(26.1%) were males. Thirty-one (27.0%) were diagnosed as βTT among them.RDW had a sensitivity of 83.9% and specificity of 91.7% in the diagnosis of βTT by differentiating from IDA. CONCLUSION: RDW is a reliable and useful index for the diagnosis of IDA and differentiates it from βTT.

A Rare Case of Compound Heterozygous Sickle Cell Beta Thalassaemia with High HbF and Normal HbA2 Levels Detected on HPLC

Compound heterozygous Sickle Haemoglobin (HbS) beta (β) thalassaemia arises from the mutations associated with sickle cell and β thalassaemia and significantly affects populations in low income countries like India. Elevated levels of Haemoglobin A2 (HbA2) represent the primary indicator for identifying carriers of β thalassaemia. However, it’s worth noting that sometimes, High Performance Liquid Chromatography (HPLC) encounters challenges in confirming a final diagnosis when levels of HbA2 and HbS fall outside the diagnostic range. A nine-year-old male and his sister 11-year-old female patient presented with high-grade fever and jaundice since two weeks. Following admission, Complete Blood Count (CBC) and HPLC of both children were done. Hb of male and female child revealed 1.8 g/dL and 1.5 g/dL, respectively. HPLC of male child revealed Haemoglobin F (HbF) 27.4%, HbS 56.3%, HbA2 3.8% and of female child revealed HbF 39.2%, HbS 43.5%, HbA2 3%. HPLC reports of both children were suggestive of differential of compound heterozygous HbS β thalassaemia and HbS homozygous. Later, HPLC of their parents was also done. HPLC of father was suggestive of thalassaemia trait and of mother suggestive of sickle cell trait, following which final diagnosis of both children was given as compound heterozygous HbS β thalassaemia. Diagnosing these compound heterozygous haemoglobinopathies can be challenging. As their is resemblance in clinicopathological features of sickle cell anaemia and β thalassaemia disorders, it is important to carefully differentiate between them although prognosis is better than thalassaemia major or sickle cell anaemia.