Beta-thalassemia Trait Research Articles

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.
 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.

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

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<0.001). Blood transfusion needed during 1st trimester (1.3%), 2nd trimester (4.6%), 3rd trimester (8%) and at postpartum period (9.3%) (P>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<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

Multi-criteria decision making to validate performance of RBC-based formulae to screen beta-thalassemia trait in heterogeneous haemoglobinopathies

BackgroundIndia has the most significant number of children with thalassemia major worldwide, and about 10,000-15,000 children with the disease are born yearly. Scaling up e-health initiatives in rural areas using a cost-effective digital tool to provide healthcare access for all sections of people remains a challenge for government or semi-governmental institutions and agencies.MethodsWe compared the performance of a recently developed formula SCS_{BTT} and its web application SUSOKA with 42 discrimination formulae presently available in the literature. 6,388 samples were collected from the Postgraduate Institute of Medical Education and Research, Chandigarh, in North-Western India. Performances of the formulae were evaluated by eight different measures: sensitivity, specificity, Youden’s Index, AUC-ROC, accuracy, positive predictive value, negative predictive value, and false omission rate. Three multi-criteria decision-making (MCDM) methods, TOPSIS, COPRAS, and SECA, were implemented to rank formulae by ensuring a trade-off among the eight measures.ResultsMCDM methods revealed that the Shine & Lal and SCS_{BTT} were the best-performing formulae. Further, a modification of the SCS_{BTT} formula was proposed, and validation was conducted with a data set containing 939 samples collected from Nil Ratan Sircar (NRS) Medical College and Hospital, Kolkata, in Eastern India. Our two-step approach emphasized the necessity of a molecular diagnosis for a lower number of the population. SCS_{BTT} along with the condition MCVle 80 fl was recommended for a higher heterogeneous population set. It was found that SCS_{BTT} can classify all BTT samples with 100% sensitivity when MCVle 80 fl.ConclusionsWe addressed the issue of how to integrate the higher-ranked formulae in mass screening to ensure higher performance through the MCDM approach. In real-life practice, it is sufficient for a screening algorithm to flag a particular sample as requiring or not requiring further specific confirmatory testing. Implementing discriminate functions in routine screening programs allows early identification; consequently, the cost will decrease, and the turnaround time in everyday workflows will also increase. Our proposed two-step procedure expedites such a process. It is concluded that for mass screening of BTT in a heterogeneous set of data, SCS_{BTT} and its web application SUSOKA can provide 100% sensitivity when MCVle 80 fl.

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 >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.

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.

ASSOCIATION ASSOCIATION OF SHINE AND LAL INDEX β-THALASSEMIA TRAIT SCREENING RESULTS WITH ANAEMIA AND LOW BIRTH WEIGH

Beta thalassemia trait are more likely to have anemia which leading to intrauterine hypoxia and adverse uterine conditions. Adverse intrauterine environment has been shown to have a significant impact on the risk of low birth weight. Therefore, this study aims to investigate association between Shine and Lal index β-thalassemia trait screening results with anaemia and lowbirth weight. A retrospective study design was conducted based on medical records of mothers and their infants born in 2022 at a regional hospital, in East Nusa Tenggara. The inclusion criteria were being live birth, singleton births and gestational age &gt;28 weeks. Mothers didn’t have complete records were excluded from study. Analysis uses chi-square test to evaluate the relationship between dependent and independent variables, This study identified 738 eligible samples. The incidence of suspected β-thalassemia trait according Shine and Lal Index was about 42.5%. There is a significant relationship between Shine and Lal β-thalassemia trait screening results with maternal anaemia and no relationship between Shine and Lal index β-thalassemia trait screening results and LBW

Two cases of vitamin B12 deficiency in patients with beta-thalassemia trait: lessons in diagnosis

BackgroundCoexisting pathologies is not a new phenomenon and can cause diagnostic difficulties when they overshadow one another. They may alter the cytomorphology of cells and the machine readings to an extent that the actual diagnosis is missed. One such scenario is created by coexisting megaloblastic anemia and beta-thalassemia trait where the RBC indices and the hemoglobin chromatogram findings conform to neither of the two. Case presentationWe present two cases of anemia presenting with normocytic normochromic indices, increased red cell distribution width (RDW), elevated HbA2 levels and moderately high HbF levels in both of them and an additional low HbA1c in case 2. Upon evaluation of peripheral smear and biochemical tests, a non-immune hemolytic component was also identified with deficient Vit B12 levels in case 1 and highly elevated levels post-supplementation in case 2. ConclusionsTaking together the peripheral smear, erythrogram, chromatogram and biochemical findings, it was deduced that the alterations were caused by coexisting beta-thalassemia trait and megaloblastic anemia. Vit B12 deficiency was the cause behind hemolysis owing to intramedullary destruction of abnormal precursors. Upon supplementation in case 2, the immediate reticulocyte response was the reason behind spuriously low HbA1c.

Diagnostic Value of Red Cell Distribution Width and Red Blood Cell Distribution Width Index in Differentiating between Iron Deficiency Anemia and Beta Thalassemia Trait

Objective: To determine the diagnostic value of red blood cell distribution width and red cell distribution width index in differentiating iron deficiency anaemia and beta-thalassemia trait. Study Design: Cross-sectional study. Place and Duration of Study: Pak Emirates Military Hospital, Rawalpindi Pakistan, from Dec 2021 to Feb 2022. Methodology: A study population of 110 children with an age limit of 1.5-7 years who reported low haemoglobin wassubjected to serum iron and ferritin levels with further evaluation of red cell count, blood morphology, and comparison of mean corpuscular volume. Red cell distribution width was taken from the lab report, whereas Red blood cell distribution width index value was computed for the samples. Results: A total of 110 patients were enrolled in the study. Seventy-five (68.18%) participants were diagnosed with IDA, 26(23.63%) participants were the candidate of βTT. Nine participants were suffering from anaemia of variable etiologies such as chronic ailment and sideroblastic, etc. βTT patients presented with higher RBC counts with a mean of 5.71±1.2 x1012 /l (6.8- 8.5 x1012 /l) when compared to IDA participants who deciphered values of 3.5±0.5 (2.6-4.3 x1012 /l). Mean MCV in βTT was 52.2±2.7(50.1-56.8) whereas for IDA were 72.5±1.2(61.2–78.3). In IDA low serum ferritin was recorded 4.02±1.1(2.2-9.2) as compared to mean values of βTT patients. Conclusion: Red cell distribution width index and Red blood cell distribution width are authentic variables and inexpensive modalities in differentiating between iron deficiency anaemia and beta-thalassemia trait with reliability.

Beta Thalassemia Mutation Analysis in Fetal Samples for Optimal Mutation Screening Strategy

Objective: To determine the frequency of various beta-thalassemia mutations in the prenatal period and ascertain the spectrum of mutations to optimise mutation analysis with cost reduction in testing. Study Design: Cross-sectional study Place and Duration of Study: Department of Molecular Hematology, Armed Forces Institute of Pathology (AFIP)/National University of Medical Sciences (NUMS), Rawalpindi Pakistan from Jul 2021 to Jan 2022. Methodology: Chorionic villus sampling (CVS) was performed at 12-16 weeks of gestation in target couples where both parents were known β-thalassemia carriers. Deoxyribonucleic acid (DNA) was extracted from fetal tissues, and polymerase chain reaction (PCR) was performed, and mutations were analysed with controls on polyacrylamide gel electrophoresis (PAGE). Results: Out of a total of 87 CVS samples, 17(19.5%) showed no mutation, 25(28.7%) had Beta-thalassemia major, and 45 (51.7%) were beta-thalassemia trait (heterozygous). Eight mutations were detected in the study population, and the three most common mutations were Fr 8/9, IVS 1/5 and Cd 15. Comparatively less common mutations included Cd 5, Fr 41/42, Fr 16, IVS 1/1 and Cap+1. Ethnical distribution of these mutations showed high frequency in Pathans and Punjabis compared to Sindhis, Balochis, Saraikis and Kashmiris. Conclusion: The commonly detected prevalent thalassemia mutations must be tested to provide cost-effective facilities in our resource-constrained country. This study will help in future testing strategies and optimisation of mutation analysis in our country.

Effect of Iron replacement therapy in Pregnant Beta Thalassemia Carrier Patients with Coexisting Iron Deficiency Anemia.

Iron deficiency anemia (IDA) and β -Thalassemia trait are two prevalent etiologies of microcytic hypochromic anemia. Pregnant women with IDA face significant risk of short-term and long-term complications for mother and newborns. The incidence of concurrent thalassaemia trait and iron deficiency was reported to be quite high but despite the high prevalence of these two conditions, the diagnosis is often underestimated and not properly managed.&#x0D; OBJECTIVE; The present study was conducted to evaluate impact of iron therapy in pregnant beta thalassemia minor patients with iron deficiency anemia.&#x0D; METHODS; Study Group constitutes 60 beta thalassemia trait pregnant women with iron deficiency anemia (IDA) with Hb less than 11g/dl, HbA2 levels &gt;3.5% on HPLC and low serum ferritin (&lt;30 ng/mL).After the initial investigations, participants received iron supplementation as 60 mg elemental iron three times daily for duration of 8 weeks. After completing therapy, complete blood count and serum ferritin were performed.&#x0D; RESULTS; Iron replacement therapy results in effective increment in hemoglobin, red cell indices and Serum ferritin.&#x0D; CONCLUSION; Pregnant women with beta-thalassemia minor combined with IDA can receive Iron replacement therapy for improvement in Hemoglobin effectively.

Antenatal screening for Thalassemia minor among conceiving females: A preventive measure

Beta Thalassemia is one of the most common global health concerns worldwide. It affects a large population in Pakistan, too, thereby increasing the financial burden. Several screening procedures have been proposed to lessen the cost burden associated with Beta Thalassemia. This study focuses on studying the occurrence of beta-thalassemia trait among pregnant ladies, the commonest mutations among Beta Thalassemia Trait cases, and defining the hematological parameters to overcome this expensive burden.Blood was collected via venipuncture to carry-out CBC (Complete Blood Count) and H.B. (Hemoglobin) Electrophoresis is used to detect beta-thalassemia minor. In this study, the main CBC parameters to screen BTT included MCV (≤75fl), MCH (≤25pg), RBCs (≥4.50 million), and Hemoglobin (≤12g/Dl), whereas Hb electrophoresis confirmed the final diagnosis. The cut-off values for the final confirmation of BTT through Hb electrophoresis were &amp;#62;3.5% HBA2 and &amp;#60;95% HBA. Statistical tests used during the study included Mean and Standard deviation. Tetra-arm multiplex PCR was carried out to detect mutations. Thalassemia minor was detected in 15 out of 509 conceiving females present in our study cohort, thus overall incidence rate being 2.9%. Moreover, the most reliable parameters for screening beta-thalassemia minor included MCV, MCH, RBCs, and RDW. Iron Deficiency Anemia (IDA) didn't hinder the accurate diagnosis of the beta-thalassemia minor. Moreover, our data revealed the IVS 1-5(G-C) (4 samples) and FSc 8-9 (+G) (4 samples) to be the commonest mutations among carrier females. However, CD 30 mutation was found in 2 samples. However, Primers were designed for the most commonly reported mutations in Pakistan including F.Sc 8/9, IVS 1- 5, 619bp deletion, CD 16, and CD 30. Extensive screening strategies and detailed genetic counselling are needed to identify the risk and genetic epidemiology of Beta Thalassemia in Pakistan.

The blood count as a compass to navigate in the ever-changing landscape of the carrier state of hemoglobinopathies: a single-center Italian experience.

Approximately 7% of the worldwide population exhibits variations in the globin genes. The recent migration of populations from countries where hemoglobin disorders are endemic has resulted in important epidemiological changes with the diffusion of newly discovered or poorly characterized genetic variants and new combinations and very heterogeneous clinical phenotypes. The aim of our study is to assess the parameters that are more significant in predicting a positive genetic testing outcome for hemoglobinopathies in a pediatric population of patients presenting with anemia or microcythemia, without a definite diagnosis. This study included patients evaluated in our hematological outpatient clinic for anemia and/or microcythemia despite normal ferritin levels. A screening of pathological hemoglobins using high-performance liquid chromatography (HPLC) was performed for the entire population of the study. Subsequently, patients with hemoglobin (Hb) S trait and patients with an HPLC profile compatible with beta thalassemia trait were excluded from the study. Genetic screening tests for hemoglobinopathies were performed on the remaining patients, which involved measuring the red blood cell (RBC) counts, red blood cells distribution width (RDW), reticulocyte count, and mean corpuscular volume of reticulocytes (MCVr). This study evaluated a total of 65 patients, consisting of nine patients with negative genetic analysis results and 56 patients with positive genetic analysis results. The Hb and RDW values in these two groups did not demonstrate statistical significance. On the other hand, there were statistically significant differences observed in the mean corpuscular volume (MCV), RBC count, reticulocyte count, and MCVr between the two groups. Furthermore, in the group of patients with positive genetic test results, specific genetic findings associated with different HPLC results were observed. In particular, 13 patients with positive genetic test results had normal HPLC findings. This study has demonstrated that HPLC, while serving as a valuable first-level test, has some limitations. Specifically, it has been observed that some patients may exhibit a negative HPLC result despite a positive genetic analysis. In addition to the presence of low levels of Hb and HPLC alterations, other parameters could potentially indicate the underlying mutations in the globin genes. Therefore, we propose that the complete blood cell count be utilized as a widely available parameter for conducting targeted genetic analyses to avoid the risk of overlooking rare hemoglobinopathies.

Incidence of Facial Nerve Injury in Extracapsular Dissection vs Superficial Parotidectomy of Benign Parotid Lesions

Background: Anemia is the most common health problem during a woman life span. It has serious threats to pregnant women all over the world. Its prevalence in Pakistan is 75%. Thalassemia trait a common cause of anemia is usually diagnosed in pregnancy after workup of anemia. Objective: To find out the frequency of beta thalassemia trait in pregnant anemic women. Study Design: Cross-sectional study. Settings: Gynecology Unit, Hayatabad Medical Complex, Peshawar Pakistan. Duration: 6 months from 9th September 2020 to 8th march 2021. Methods: A total of 193 pregnant anemic women of age 17-40 years with a gestational age of 8-28 weeks were included in the study through a non-probability sampling technique. Those with known liver, and kidney diseases and hypothyroidism and those with pregnancy-related bleeding were excluded. Blood samples were sent for peripheral smear and Hb-electrophoresis and all the parameters were noted in the proforma. Results: Means ±SD for age was 28.35 ± 6.713 years, for gestational age was 17.08 ± 4.620 weeks and for Hb level was 7.71 ± 1.425 g/dl. 25.9% of patients were observed in 21-25 years of age. Cousin marriages were recorded in 71.5% of patients. 60.6% of patients were having a family history of thalassemia while the Beta thalassemia trait was recorded in 58.5% of patients. Conclusion: 58.5% prevalence of Beta thalassemia trait in pregnant women was observed. It was more common in age group 21-25 years. Cousin marriages and family history are the major causes of thalassemia.

Prevalence of Beta Thalassemia Trait Among Anemic Pregnant Patients

Background: Anemia is the most common health problem during a woman life span. It has serious threats to pregnant women all over the world. Its prevalence in Pakistan is 75%. Thalassemia trait a common cause of anemia is usually diagnosed in pregnancy after workup of anemia. Objective: To find out the frequency of beta thalassemia trait in pregnant anemic women. Study Design: Cross-sectional study. Settings: Gynecology Unit, Hayatabad Medical Complex, Peshawar Pakistan. Duration: 6 months from 9th September 2020 to 8th march 2021. Methods: A total of 193 pregnant anemic women of age 17-40 years with a gestational age of 8-28 weeks were included in the study through a non-probability sampling technique. Those with known liver, and kidney diseases and hypothyroidism and those with pregnancy-related bleeding were excluded. Blood samples were sent for peripheral smear and Hb-electrophoresis and all the parameters were noted in the proforma. Results: Means ±SD for age was 28.35 ± 6.713 years, for gestational age was 17.08 ± 4.620 weeks and for Hb level was 7.71 ± 1.425 g/dl. 25.9% of patients were observed in 21-25 years of age. Cousin marriages were recorded in 71.5% of patients. 60.6% of patients were having a family history of thalassemia while the Beta thalassemia trait was recorded in 58.5% of patients. Conclusion: 58.5% prevalence of Beta thalassemia trait in pregnant women was observed. It was more common in age group 21-25 years. Cousin marriages and family history are the major causes of thalassemia.

Role of Mentzer Index for Differential Diagnosis of Iron Deficiency Anaemia and Beta Thalassemia Trait.

The most common differential diagnoses of microcytic hypochromic anaemia are iron deficiency anaemia and beta thalassemia. Globally, thalassemia affects approximately 4.4 out of every 10,000 live births whereas iron deficiency anaemia comprises half of all anaemia worldwide as per world health organization. The definitive diagnosis of beta thalassemia trait and iron deficiency anaemia requires haemoglobin analysis and iron studies respectively, which are not possible to perform in all suspected cases especially in resource limited settings. The study aims to evaluate the reliability of mentzer index in differentiating beta thalassemia trait from iron deficiency anaemia. This was a cross sectional, observational study done on 59 patients each of beta thalassemia trait and iron deficiency anaemia from August 2019 to July 2020. Patients who were found to be having iron deficiency anaemia diagnosed by iron studies and beta thalassemia trait diagnosed by Hb electrophoresis were enrolled in the study using simple random sampling technique. Mentzer index correctly identified 95.76% of overall patients. Area under receiver operating characteristic curve was 0.993 (95% CI, 0.985-1.002, p<0.001). For beta thalassemia trait, mentzer index showed a sensitivity of 93.2%, specificity of 98.3%, positive predictive value of 98.2%, negative predictive value of 93.5%; while for iron deficiency anaemia, sensitivity of 98.3%, specificity of 93.2%, positive predictive value of 93.5% and negative predictive value of 98.2%. Youden's index was 91.5. The findings of the present study make mentzer index a reliable screening method, especially in a resource poor setting, like Nepal. Further confirmation by gold standard tests is recommended.

Incidence Of Hemoglobinopathies In South Indian Population – 4 Year Study

Background&#x0D; Hemoglobinopathies are very common, but majority being asymptomatic it is under diagnosed. Hemoglobinopathies are important health care threat in tropical countries. The present study analyzed the incidence of hemoglobinpathies in south Indian population reported in regional laboratory in Chennai catering Tamil nadu and Andhra Pradesh population.&#x0D; Methods&#x0D; A cohort of samples which was received for abnormal hemoglobinopathy studies for evaluation of anemia and prenatal screening from Tamil nadu and Andrapradesh population for 4 years was analyzed using capillary electrophoresis method in (Sebia Minicap instrument) for incidence of hemoglobinopathies.&#x0D; Result&#x0D; Total number of cases studied during 4 years (2018-2022) is 17678, Of which 1194(7%) were detected with hemoglobinopathy/ abnormal hemoglobin variant. Of which 56.28% were female and 43.72% were male. Common age group under study is 21-30(30.07%). Beta thalassemia trait was detected at the highest frequency (69.13%) followed by HbE-Beta thalaseemia(6.87%) and least being HbD homozygous.&#x0D; Conclusion&#x0D; Our study analyzed a cohort and reported a spectrum of hemoglobin variants and its incidence in Tamil nadu and Andhrapradesh population.

Cholinesterases as hemolytic and Inflammatory markers in Beta thalassemia trait patients

Beta thalassemia trait (BTT) is one of the most common monogenic disorders characterized by increased alpha and gamma chains with concomitant decrease in beta chains. These patients are clinically asymptomatic with mild anemia, subclinical inflammation and endothelial dysfunction. This study was undertaken to determine the role of cholinesterases in BTT. The study population included 30 BTT patients and 30 age and sex matched controls. Patients were labelled as BTT only if they had Hb A2 &gt;3.5 and/ HbF&gt;2 by variant analysis using cation HPLC. Percentage hemolysis, erythrocyte acetyl cholinesterase (AChE), plasma butyryl cholinesterase (BChE) and globulins were estimated by spectrophotometric methods. Intracellular adhesion molecule (ICAM-1) was evaluated by ELISA. Percentage hemolysis was significantly high in BTT patients. Both the cholinesterases were lower in BTT patients compared to controls. Decrease in BChE was statistically significant (p&lt; 0.0001). An apparent increase in plasma ICAM-1 was observed in BTT patients compared to the normal group. The increase in plasma globulins was statistically significant in BTT (p&lt;0.0001). AChE and HbA1C showed significant negative correlation with percentage hemolysis. Further, acetylcholinesterases showed a statistically significant negative correlation with ICAM-1. A negative correlation between globulins and cholinesterases in BTT, highlights the involvement of cholinesterases in inflammation.Based on our findings, we conclude that cholinesterases play a key role in inflammation and can be considered as biomarkers of hemolysis in BTT.