Thalassemia Research Articles

Frequency Of Beta Thalassemia Major Abo Blood Groups In Different Foundation Of District Peshawar

Background: Thalassemia major (TM) is an inherited hemolytic disorder occur due to abnormal hemoglobin production as a result of HBB (Haemoglobin Subunit Beta) gene mutation because HBB gene provides instructions for making of beta globin. The research study aim is to determine the frequency of beta thalassemia major ABO blood group in different foundation of district Peshawar. Methods: A descriptive cross-sectional study was conducted, involving 100 individuals with Thalassemia major from different foundations in Peshawar, including Hamza Foundation and Fatmid Foundation. The data was analyzed for statistical analysis using SPSS version 22.0 software. Results: The study analyzed the gender-wise distribution of Thalassemia major patients, revealing that out of the 100 individuals, 43 were female (43%) and 57 were male (57%). Moreover, the study examined the ABO blood types among the participants. The most prevalent blood type among the Thalassemia major patients was B+ (35.0%), followed by O+ (34.0%), A+ (26.0%), AB+ (4.0%), and O- (1.0%). Conclusion: Based on the results, it can be said that among those with Thalassemia major in the population under study, the B+ blood type is the most prevalent and well-known ABO blood group.

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 (>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.

Multiparametric Cardiac Magnetic Resonance Assessment in Sickle Beta Thalassemia.

Cardiac involvement in sickle beta thalassemia (Sβ-thal) patients has been poorly investigated. We aimed to evaluate cardiac function and myocardial iron overload by cardiovascular magnetic resonance (CMR) in patients with Sβ-thal. One-hundred and eleven Sβ-thal patients consecutively enrolled in the Myocardial Iron Overload in Thalassemia (MIOT) network were studied and compared with 46 sickle cell anemia (SCA) patients and with 111 gender- and age- matched healthy volunteers. Cine images were acquired to quantify biventricular function. Myocardial iron overload (MIO) was assessed by the T2* technique, while macroscopic myocardial fibrosis was evaluated by the late gadolinium enhancement (LGE) technique. In Sβ-thal and SCA patients, the morphological and functional CMR parameters were not significantly different, except for the left atrial area and left ventricular (LV) stroke volume, indexed by body surface area (p = 0.023 and p = 0.048, respectively), which were significantly higher in SCA patients. No significant differences between the two groups were found in terms of myocardial iron overload and macroscopic myocardial fibrosis. When compared to healthy subjects, Sβ-thal patients showed significantly higher bi-atrial and biventricular parameters, except for LV ejection fraction, which was significantly lower. The CMR analysis confirmed that Sβ-thal and SCA patients are phenotypically similar. Since Sβ-thal patients showed markedly different morphological and functional indices from healthy subjects, it would be useful to identify Sβ-thal/SCA-specific bi-atrial and biventricular reference values.

Fuzzy-Based Fusion Model for β-Thalassemia Carriers Prediction Using Machine Learning Technique

The abnormality of haemoglobin in the human body is the fundamental cause of thalassemia disease. Thalassemia is considered a common genetic blood condition that has received extensive investigation in medical research globally. Likely, inherited disorders will be passed down to children from their parents. If both parents are beta Thalassemia carriers, 25% of their children will have intermediate or major beta thalassemia, which is fatal. An efficient method of beta thalassemia is prenatal screening after couples have received counselling. Identifying Thalassemia carriers involves a costly, time-consuming, and specialized test using quantifiable blood features. However, cost-effective and speedy screening methods must be developed to address this issue. The demise rate due to thalassemia development is outstandingly high around the globe. The passing rate due to thalassemia development can be reduced by following the proper procedure early; otherwise, it significantly impacts the body. A machine learning-based late fusion model proposes the detection of beta-thalassemia carriers by analyzing red blood cells. This study applied the late fusion technique to employ four machine learning algorithms. For identifying the beta-thalassemia carriers, logistics regression, Naïve Bayes, decision tree, and neural network have achieved an accuracy of 94.01%, 93.15%, 97.93%, and 98.07%, respectively, by using the features-based dataset. The late fusion-based ML model achieved an overall accuracy of 96% for detecting beta-thalassemia carriers. The proposed late fusion model performs better than previously published approaches regarding efficiency, reliability, and precision.

Development and Psychometric Assessment of “Self-Efficacy Scale” for Patients With Beta Thalassemia Major: A Mixed-Methods Study

Background and Purpose:Since self-efficacy is a significant factor influencing the self-management of chronic diseases, including thalassemia major, it is considered a key concept in chronic diseases. This study aimed to develop and psychometrically evaluate the self-efficacy scale for patients with thalassemia major.Methods:This was a mixed-methods study conducted in two phases. In phase 1, a qualitative study with a conventional content analysis design was conducted. In phase 2, which was a quantitative one, the psychometric analysis of the instrument’s phrases was done.Results:The instrument has 35 items and 3 factors. The Cronbach’s alpha coefficient and the intraclass correlation coefficient were .93 and .94, respectively.Conclusions:This study confirms the validity and reliability of the Beta Thalassemia Major Self-Efficacy Scale. With this tool, nurses can evaluate the self-efficacy of patients with thalassemia major.

Prevalence of Thalassemia in Nigeria: Pathophysiology and Clinical Manifestations

There is evidence linking genes for thalassaemia, sickle cell diseases, and glucose-6-phosphate dehydrogenase (G6PD) deficiency to a high prevalence of malaria infection. Haemoglobinopathies are hereditary conditions that mostly results in thalassaemia and sickle-cell anaemia. The current global haemoglobin gene carrier population (i.e., healthy individuals who have acquired only one mutant gene from one parent) is between 1 and 5%. Some haemoglobinopathy genes (alpha-thal, beta-thal and HbS) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively. Nigerians have a prevalence of 25–30% for sickle cell anaemia (SCA), G6PD, but both alpha thalassaemia and beta thalassaemia are at the lower limit. Thalassaemia and SCA have comparable clinical manifestations. which is quite prevalent in Nigeria? This could lead to underdiagnosis of thalassaemia, which accompany hypochromia and microcytosis, that could be mistaken for iron deficiency anaemia. Depending on the levels of foetal haemoglobin and haemoglobin A2, thalassemia, iron deficiency anaemia, and sickle cell disease continue to be the most common chronic types of anaemia. This review provides details information on the prevalence of thalassaemia in Nigeria and molecular mechanisms in the expression of thalassaemia genes. The authors also suggest various possible way to minimize the occurrences of thalassaemia in Nigeria

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.

The relationship between increased iron load and respiratory function tests in patients diagnosed with transfusion dependent thalassemia

Aims: Thalassaemia syndromes are the most common single gene disorders affecting more than 200 million people worldwide. Beta thalassaemia (BT) is the most common cause of transfusion-dependent thalassaemia (TDT). It has been reported in studies that iron accumulation occurs in the lungs, especially in the alveolo-capillary membrane, and the frequency of parenchymal disease increases in patients receiving frequent blood transfusions. In our study, we aimed to investigate whether there is a correlation between iron overload and pulmonary function in patients with TDT.
 Methods: The study included 61 patients aged between 18 and 45 years with a diagnosis of TDT who were followed up in the hematology clinic of our tertiary care center between 2018 and 2023. Based on spirometry measurements, the pattern of respiratory impairment was defined and correlated with serum ferritin levels. 
 Results: The mean age of the 61 patients included in the study was 24.83±6.02 years and 33 were female and 28 were male. The mean ferritin value was 3150.88±2553.51 ng/ml. The annual number of transfusions was 15.39±1.90. According to the PFT results, mean FVC % value was 81.59±9.28, mean FEV1 % value was 82.11±7.6, mean FEV1/FVC % value was 102.55±7.63. Mean ferritin values were found to be significantly higher in patients diagnosed with TDT with restrictive lung pattern (p=0.004). 
 Conclusion: Our study showed that high ferritin levels are related to increased restrictive lung disease in the adult age group.

Evaluation of the Correlation Between Electrocardiographic Abnormalities, Cardiac Iron Overload, and Magnetic Resonance T2* Values in Patients with Beta Thalassemia Major

Background: Beta thalassemia major (β-TM) is an inherited blood disorder. Affected patients require frequent blood transfusions, leading to iron deposition and end organ damage, particularly myocardial dysfunction. A 12-lead ECG is a readily available tool that could be used to screen for conduction abnormalities and arrhythmias as a marker of worsening myocardial function. Methods: A total of 108 β-TM patients were evaluated for correlation between abnormal findings on the surface ECG and severity of myocardial iron deposition in magnetic resonance imaging as measured by T2* levels. Results: Patients with T2* below 20 msec had significantly longer PR intervals, P wave durations, and QTc intervals. Patients with T2* below 10 msec had the longest QRS duration and QRS activation times. Atrial fibrillation was more prevalent in patients with lower T2* levels. With a decrease in T2*, the probability of notching of QRS in the limb and precordial leads increased. Conclusion: Abnormal ECG is prevalent in β-TM patients, and the frequency of changes increases with the severity of iron overload. A 12-lead ECG is a valuable and readily available tool for the early assessment of myocardial damage and the implementation of a timely and appropriate management strategy.

Transfusion in hemoglobinopathies and red blood cell alloimmunization: data from Sicily, Sardinia and Malta.

Hemoglobinopathies are a group of diseases that include those due to globin gene mutations, such as thalassemia major (TM) and thalassemia intermedia (TI) or due to alteration of hemoglobin structure such as sickle cell disease (SCD), as well as a combination of these conditions such as thalasso-drepanocytosis (TD). They constitute the most frequent hereditary anemias requiring blood transfusion. In April 2022, a questionnaire was sent to the Transfusion Services (TS) of Sicily, Sardinia and the Maltese National Blood Transfusion (MNBT) service. The questionnaire was divided into a generic part including the number of patients followed and the type of hemoglobinopathy, and a section relating to transfusion therapy, including the number of units transfused, whether red blood cells (RBC) were washed and, finally, a section relating to the presence or absence of alloantibodies and their identification. Data was retrieved for 2,574 patients: 68.6% TM, 15.4% TI, 10.3% TD, 4.1% SCD, and 1.6% other hemoglobinopathies (OHA). The number of RBC units transfused was 76,974, equivalent to 24.5% of all the RBCU transfused from the total number of patients followed. The number of washed RBCU was 21.1% of all the units used; 337 patients (37%) were diagnosed with alloantibodies, the majority of which were patients with SCD (20.6%). Of the 485 alloantibodies found, 90.3% were identified. The antibodies found most frequently were related to the Kell system (41.7%) followed by antibodies to the Rhesus system (37.9%); 29.7% of patients had more than one antibody. From our study, certain indications can be formulated: complete the National Registry for patients with hemoglobinopathies; create a Registry of alloimmunized patients to ensure transfusion therapy is as safe as possible, considering antibody evanescence; and 3) increase the recruitment of blood donors of diverse ethnicities.

Oral Aphthous-like Ulcers Response to Topical Therapy in Young Adult Woman with Beta-Thalassemia Intermedia

Background: Beta thalassemia may have some oral manifestations. Oral mucosa ulcer may be one of the oral manifestations of beta-thalassemia. The oral ulcer may resemble recurrent aphthous stomatitis (RAS). This current case report aims to present an aphthous oral ulcer as a manifestation in young adult women with beta-thalassemia. Case report: A 28-year-old woman complained of recurrent painful oral ulcers in the labial mucosa. She was diagnosed with beta-thalassemia intermedia three years before. The ulcer may take 3-4 weeks to heal completely. Intraoral examination revealed two yellowish ulcers, 5 mm and 10 mm, surrounded by an erythematous halo, regular margin on left lips mucosa, oral ulcer pain scale measured medium level by visual analogue scale (VAS). The oral aphthous-like ulcer was taken for diagnosis in this case. Topical treatment was given to the oral ulcer using chlorine dioxide gel three times daily. After 10 days, the oral aphthous-like ulcer was healed. Conclusion: An oral aphthous-like ulcer may be the oral manifestation in beta-thalassemia patients, and the oral ulcer may respond well to topical treatment commonly used in recurrent aphthous stomatitis (RAS) patients. Hence, it is important to recognize oral conditions as one clinical manifestation in beta-thalassemia patients and choose the appropriate treatment to accelerate oral ulcer healing.

Evaluation of Serum Human Kidney Injury Molecule-1 and N-Acetyl-β-D-Glucosaminidase as Early Markers of Kidney Injury in Patients with β-Thalassemia Major in Diyala Governorate

Thalassemia is a genetic disease identified by a defect in the production of one or more globin chains. This study was aimed at determining the possibility of using "serum kidney injury molecule-1 (KIM-1)" and "N-acetyl-β-D-glucosaminidase (NAG)" in the diagnosis of early renal damage in thalassemia patients. Serum biomarkers (CBC, urea, creatinine, KIM-1, and NAG) were determined in 45 patients with major thalassemia with an age range of 4-45 years who attended Baquba General Hospital. A significant increase in S.KIM-1 and S.NAG levels in patients compared with controls. The level of KIM was positively correlated with that of urea and creatinine in comparison with control. Also, the level of NAG was strongly positively correlated with the level of KIM-1 (p = 0.000) and had a moderately positive correlation with urea and creatinine (p = 0.000). According to ROC, KIM-1 had a sensitivity of 95.56% and a specificity of 88.89%, while NAG had a sensitivity of 100% and a specificity of 75.6%. This study concluded that S.KIM-1 and S.NAG are highly promising biomarkers for the detection of "acute kidney injury" in an early stage before elevated urea and creatinine in thalassemia patients.

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

The effect of minor thalassemia on the liver function and lipid profile compared with major thalassemia.

It is thought that only patients with major thalassemia need to be under healthy control compared to minor. Thus, the aim of this work is to investigate the minor thalassemia complications in the liver status and compare them with the major thalassemia. So, 84 patients with thalassemia were randomly selected; 56 with major and 28 with minor. The Blood Samples were collected and used to determine the levels of ferritin, liver enzymes and lipid profiles. The results were showed that while there were no significantly differences in the ALP levels, ALT and AST levels were significantly higher in the major thalassemia compared to minor. All the patients with major and minor had abnormal higher ALP, 45% of major had abnormal higher AST and 30% of the major had abnormal ALT than normal range. Bild, BilT, cholesterol and trig levels were significantly higher while LDH and UHDL levels were significantly lower in the major compared to minor. The Bild levels in 90% of the major compared to 40% of the minor were abnormal higher than normal range. As conclusion, there were abnormality in the ALP and some lipid profile of minor thalassemia. So, the patients with minor thalassemia could be under risk of liver disorder so they need to be under control and to find the exact reason of this disorder need more researches.

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.

Awareness and practices regarding thalassemia among parents of transfusion dependent beta thalassemia patients registered with Hamza Foundation Peshawar, Pakistan

Thalassemia, a pervasive and chronic condition that impacts an estimated 200 million people worldwide, is predominantly caused by the beta-thalassemia gene, which is found in approximately 3% of the global population. The purpose of this research, which was carried out from June to December 2022 at the Haemophilia Hospital of the Hamza Foundation Welfare Thalassemia, was to evaluate the knowledge and behaviours of guardians of transfusion-dependent beta-thalassemia patients who were registered with the foundation. The findings of the research, which utilised non-probability convenience sampling to select 150 parents, indicated that 38.7% of the parents surveyed were cognisant of thalassemia, whereas permanent treatment was conspicuously unknown to them. Furthermore, it is noteworthy that a substantial proportion (94%) of parents readily shared food, underscoring the criticality of implementing educational and awareness campaigns targeting not only parents but the broader populace in order to rectify the lack of understanding regarding thalassemia. The fact that genetic counselling was availed of by a minuscule proportion (13.3%) of parents underscores a possible avenue for enhancement in comprehensive care approaches.

Analyzing Phytocompounds, Antioxidants, and In-Silico Molecular Docking of Plant-Derived Potential Andrographis paniculata Inhibitory Action to Managed Beta Thalassemia

It has long been known that medicinal plants are vital to human health and have been used for therapeutic purposes since the beginning of civilization. The goal of this study is to evaluate the scientific data supporting the use of the herbal remedy Andrographis paniculata in the management of beta thalassemia. Phytocompounds, one of the bases of traditional use, were assessed both qualitatively and quantitatively in five different extracts with varying solvent properties (methanol, chloroform, hexane, ethyl acetate, and aqueous), providing the fundamental explanation for the therapeutic relevance of this plant. The presence of flavonoids, phenols, tannins, saponins, and alkaloids in plant extracts was assessed. It was shown that ethanol extract had the highest concentration of phytocompounds among the various extracts, while chloroform extract had the lowest concentration. The plant's antioxidant activity was also assessed, and the results showed that the methanolic extract has potential antioxidant activity, as shown by the DPPH's lowest half-inhibitory concentration (IC50) values. To further evaluate the phytocompounds for their in-silico study, molecular docking techniques were employed. These phytocompounds (DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide) to the fetal hemoglobin target protein PDBID:4MQJ were also found to have interactions with significantly minimum binding energies of −12.52 kcal/mol, −11.22 kcal/mol, and −11.08 kcal/mol, where DL-alphatocopherol was found to have the highest binding affinity (−12.524 kcal/mol) and interaction with the active site HIS97. The SwissADME was used to assess the drug-likeness and ADMET characteristics of phytocompounds derived from Andrographis paniculata. Based on chemical characteristics, drug-likeness score, and ADMET model, the present study selected and screened the phytocompounds DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide, which are expected to have better drug-like features with improved toxicity profiles. Therefore, it makes sense to send the compounds reported in this work to an in-vivo analysis of therapeutic applicability due to their significant biological features.

Analyzing Phytocompounds, Antioxidants, and In-Silico Molecular Docking of Plant-Derived Potential Andrographis Paniculated Inhibitory Action to Managed Beta Thalassemia

It has long been known that medicinal plants are vital to human health and have been used for therapeutic purposes since the beginning of civilization. The goal of this study is to evaluate the scientific data supporting the use of the herbal remedy Andrographis paniculata in the management of beta thalassemia. Phytocompounds, one of the bases of traditional use, were assessed both qualitatively and quantitatively in five different extracts with varying solvent properties (methanol, chloroform, hexane, ethyl acetate, and aqueous), providing the fundamental explanation for the therapeutic relevance of this plant. The presence of flavonoids, phenols, tannins, saponins, and alkaloids in plant extracts was assessed. It was shown that ethanol extract had the highest concentration of phytocompounds among the various extracts, while chloroform extract had the lowest concentration. The plant's antioxidant activity was also assessed, and the results showed that the methanolic extract has potential antioxidant activity, as shown by the DPPH's lowest half-inhibitory concentration (IC50) values. To further evaluate the phytocompounds for their in-silico study, molecular docking techniques were employed. These phytocompounds (DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide) to the fetal haemoglobin target protein PDBID:4MQJ were also found to have interactions with significantly minimum binding energies of -12.52 kcal/mol, -11.22 kcal/mol, and -11.08 kcal/mol, where DL-alphatocopherol was found to have the highest binding affinity (-12.524 kcal/mol) and interaction with the active site HIS97. The SwissADME was used to assess the drug-likeness and ADMET characteristics of phytocompounds derived from Andrographis panicluata. Based on chemical characteristics, drug-likeness score, and ADMET model, the present study selected and screened the phytocompounds DL-alphatocopherol, 3,19-O-diacetylanhdroandrographolide, and 14-acetylandrographolide, which are expected to have better drug-like features with improved toxicity profiles. Therefore, it makes sense to send the compounds reported in this work to an in vivo analysis of therapeutic applicability due to their significant biological features.

The Evaluation of Invasive Prenatal Diagnostic Tests in North Cyprus: A Retrospective Study.

Congenital diseases are still an important medical, social, and economic problem all over the world. In North Cyprus, in addition to other reasons, early prenatal diagnostic measures are undertaken to prevent births with thalassemia major, a locally widespread genetic disease. This study aims to evaluate the results of prenatal invasive diagnostic tests performed in a private obstetrics clinic in Northern Cyprus and show the diagnosis process of thalassemia and chromosomal anomalies. This study is a retrospective, descriptive study. Chorionic villus sampling (CVS) results and the amniocentesis tests performed between 1990 and 2022 are evaluated. Thalassemia and chromosome analysis of samples obtained by CVS and amniocentesis tests were performed. To diagnose alpha or beta thalassemia and sickle cell, 239 CVS was performed. And to diagnose chromosomal anomalies, 396 CVS and amniocentesis were performed. The mean age of the 480 pregnant women included in the study was 31.12 years (18-46) and 30% of them were older than 34 years. The most common indications for invasive prenatal diagnostic test (IPDT) were; mother/father thalassemia minor/major, advanced maternal age, high risk of ultrasonography erase findings, and the noninvasive screening test. The result of IPDT detected 7.3% chromosomal anomaly and 69.5% thalassemia and sickle cell anemia. Of the 239 CVS performed to diagnose alpha or beta thalasemia and sickle cell, 23.4% beta major, 42.3% beta minor, and 2.1% alpha minor were diagnosed. Of the 396 CVS and amniocentesis performed to diagnose chromosomal anormalies; 2.8% of Down syndrome and 4.54% of other chromosomal anomalies were diagnosed. IPDT is important in correctly diagnosing fetal anomalies at the prenatal stage to help families decide at the right time.

Frequency of Diabetes Mellitus in Thalassemia Major Patients in Thalassemia Center, Sir Ganga Ram Hospital, Lahore

Background: Diabetes mellitus (DM) represents a significant complication in individuals with thalassemia major (TM),(1) yet the underlying mechanisms and risk factors are not yet completely understood. Aim of this study is to investigate the frequency and associated factors of Diabetes Mellitus in Thalassemia Major patients and describing relationship between genetic predisposition, iron overload and metabolic dysfunction. Objectives: Determining the frequency of Diabetes Mellitus among Thalassemia Major patients presenting at the Thalassemia Center, Sir Ganga Ram Hospital, Lahore. Additionally, the study aims to describe demographic factor, clinical parameters and family history profiles associated with the presence of DM. Methods: A cross-sectional study was carried out from July 2023 to October 2023, involving data collection from medical records of Thalassemia Major patients over a three-month period. Demographic characteristics, including age and gender; clinical parameters such as the number of blood transfusions; and family history profiles of thalassemia and Diabetes Mellitus wereanalyzed. Statistical analysis, including chi-square tests, was used to assess associations and significance levels. Results: The study included 129 Thalassemia Major patients, with a majority falling within the 5-11 years age group (70%) and a slight predominance of males (56%). There wer no significant associations upon analysis between age, gender, or the number of blood transfusions and DM. There was a significant correlation between positive family history of thalassemia (p = 0.0047) and Diabetes Mellitus (p = 0.0026) with the presence of Diabetes Mellitus among Thalassemia Major patients. Conclusion: Despite the lack of significant associations with demographic and clinical parameters, the findings emphasize the need for targeted screening and intervention strategies for high-risk individuals. (2)