Thalassemia, a human blood disorder

A group of inherited blood defects is known as Thalassemia is among the world’s most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these proteins may be completely absent. α and β globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, γ globin proteins partner with α globin and are later replaced by β globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.

Construction and Validation of a Novel Ferroptosis-Related Prognostic Model for Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clonal malignant proliferative blood disorder with a poor prognosis. Ferroptosis, a novel form of programmed cell death, holds great promise for oncology treatment, and has been demonstrated to interfere with the development of various diseases. A range of genes are involved in regulating ferroptosis and can serve as markers of it. Nevertheless, the prognostic significance of these genes in AML remains poorly understood. Transcriptomic and clinical data for AML patients were acquired from The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO). Univariate Cox analysis was performed to identify ferroptosis-related genes with prognostic value, and the least absolute shrinkage and selection operator (LASSO) algorithm and stepwise multivariate Cox regression analysis were utilized to optimize gene selection from the TCGA cohort (132 samples) for model construction. Tumor samples from the GEO database (136 samples and 104 samples) were used as validation groups to estimate the predictive performance of the risk model. Finally, an eight-gene prognostic signature (including CHAC1, CISD1, DPP4, GPX4, AIFM2, SQLE, PGD, and ACSF2) was identified for the prediction of survival probability and was used to stratify AML patients into high- and low-risk groups. Survival analysis illustrated significantly prolonged overall survival and lower mortality in the low-risk group. The area under the receiver operating characteristic curve demonstrated good results for the training set (1-year: 0.846, 2-years: 0.826, and 3-years: 0.837), which verified the accuracy of the model for predicting patient survival. Independent prognostic analysis indicated that the model could be used as a prognostic factor (p ≤ 0.001). Functional enrichment analyses revealed underlying mechanisms and notable differences in the immune status of the two risk groups. In brief, we conducted and validated a novel ferroptosis-related prognostic model for outcome prediction and risk stratification in AML, with great potential to guide individualized treatment strategies in the future.

Media Awareness Preferences for Information on Sickle Cell Disorder Among University Students in Southwestern Nigeria

Sickle cell disorder (SCD) is a defective blood disorder that causes pain associated with blood genotypes of victims who risk dying before their 30th birthday. SCD is best controlled when victims avoid getting married to one another to prevent the spread of susceptible genotype. Many youths lack basic facts of SCD. For long, its awareness was limited to broadcast and print media. But today, social media platforms—Facebook, Instagram, Twitter, and WhatsApp—are also used to create awareness on the disease. This study attempts to determine the preferred communication channels for creating awareness on SCD among university students in South-Western Nigeria. Survey research design was adopted. Respondents were 259 students of Obafemi Awolowo University, Ile-Ife, and University of Ibadan, both in South-West Nigeria. Descriptive and inferential statistics were used for data analysis. Social media awareness was 51.6%, and conventional media was 48.4%. Thus, more of the respondents preferred awareness on SCD through social media platforms.

Study of Prevalance of Nephropathy among Sickle Cell Disease Patients in Waghodia Region, Vadodara, Gujarat

Introduction: Sickle-cell disease (or drepanocytosis) is a life-long blood disorder Characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickle cell disease (SCD) has several complications, including chronic renal failure, manifesting with hypertension (high blood pressure) proteinuria (protein loss in the urine), hematuria (redblood cells in urine) and worsening anaemia. Progression to end-stage renal failure confers a poor prognosis. Objective: The objective of the study was to determine the Prevalence of Nephropathy among sickle cell disease patients. Materials and Methods: This cross sectional study includes a total 150 participants who suffering from sickle cell anemia and attending our Institute. Renal function test and Urine examination of all participants was done. Estimated Glomerular Filtration Rate (eGFR) calculated using the Cockroft Gault formula. Comparison of results was done between Sickle cell trait and Sickle cell disease Group. Results: The mean age of the SCA patients were 25.54±10 years. Maximum participants are found to be from age group 25-30 yr(n=35) followed by 20-25 yr(n=30). Of the 150 SCA patients, 89 (59.33%), and 61 (40.66%) were males and females, respectively. The Mean value of S.Creatinine of SCT group is 0.73±0.46 mg/dl and SCD is 1.0±0.35 mg/dl, while the Mean value of eGFR is 134.19±87.21 ml/min and 124.20 ±58.25 ml/min in SCT and SCD Group respectively. Conclusions: From our study we conclude that the Derangement of Kidney function in sickle cell disease is frequent in our setting especially among young adult. It concerns SCD as well as SCT patients. Albuminuria is more frequent in homozygote patients and its prevalence increase with age. Age ≥ 25 years is associated with high risk of CKD in SCA group and albuminuria in SCD.

ASSESSMENT OF SERUM SCLEROSTIN LEVEL AS A BIOMARKER ASSOCIATED WITH BONE DISORDERS IN Β-THALASSEMIA PATIENTS IN AL- NAJAF CITY, IRAQ

Background: β-thalassemia is a blood disorder in which the body does not make hemoglobin normally. Aim: To assess serum sclerostin in female patients with beta-thalassemia and compare with the healthy controls and to predict its complication associated with the bone pathophysiology, for designed improvement the lifestyle goodliness for these patients. Material and methods: Sixty-nine female beta-thalassemia (βT) patients (54 βT major and 15 βT Intermedia), aged 8-40 years who dependent on transfused blood, and 20 healthy controls were evaluated serum sclerostin, and was examined the relationship with hematological parameters RBC, Hb, PCV, WBC, PLT, BMI, splenic status, iron, and ferritin levels. The information of beta-thalassemia patients was collected and records by the questioner. Results: A significantly increased serum sclerostin level (mean 26.80±0.91) pg/ml was showed in βT patients compared with the healthy controls (10.03±0.68, p smaller than 0.001) pg/ml. Furthermore, a significant decrease (p smaller than 0.05) of the sclerostin level was observed in β-thalassemia major compared to intermedia β-thalassemia patients. Serum sclerostin level revealed a significant increase in progress age; it is highest in the age group (30-40) year as compared with age group (8-18) and (19-29) year respectively. Sclerostin showed no associations with the RBC, Hb, PCV, and significantly positively correlated (p smaller than 0.05) with serum iron, ferritin levels, WBC, and PLT count. Significantly higher sclerostin levels in splenectomized and underweight groups were observed compared to unsplenectomized and normal-weight groups (p smaller than 0.05) of βT patients. Conclusions: Sclerostin plays an important role in beta-thalassemia patients and can serve as a biomarker associated with the bone pathophysiology and indicator to prevent the continuation of such serious diseases caused by iron overload in these patients.

Sickle Cell Disease- A Case Report in a theoretical approach

Sickle cell disease (SCD) is a major healthcare and societal problem affecting millions of people worldwide. In United States of America (USA), it is the most common genetic disorder affecting more than 80,000 people per year; majority of which are the African Americans Arabian and Indian (6,10). It is a genetic blood disorder affecting the red blood cells. Sickle cell pain is the hallmark of sickle cell disease and is associated with a very high mortality and morbidity rates (12). Being a genetic abnormality, the complete eradication of the disease from the affected seems to be difficult. Genetic counselling during pregnancy being the prime preventive step, Hematopoietic stem cell transplantation becomes the mainstay of treatment for complete eradication of the disease. But it is not done very often because of the significant risks involved.

Modeling the impact of campaign program on the prevalence of anemia in children under five

Anemia, a global health problem, is increasing worldwide and affecting both developed and developingcountries. Being a blood disorder, anemia may occur in any stages of life but it is quite common in childrenunder the age of five. Globally, iron deficiency is the supreme contributor towards the onset of anemia. In thispaper, a general model based on the dynamics of anemia among children under five is formulated. The populationis divided in three classes such as susceptible, affected and treated. A time-dependent control measurenamely campaign program is considered. The model has an equilibrium point and the stability of the pointis analyzed. Moreover, sensitivity of the equilibrium point is also performed to discover the critical parameters.Numerical simulations are carried out to observe the dynamic behavior of the model. Results showthat campaign program is effective in minimizing the disease progression. The number of child patients andyearly deaths significantly decrease with accelerated campaign program that is implemented earlier whereastermination of the applied measure may upturn the burden. Findings also reveal that application of controlmeasure helps to reduce the prevalence of anemia but may not eliminate the disease.

Pathophysiology of Gallstones

Gallstones are the stones developing in the gallbladder. Evolution of pathophysiology changes the trends of treatment of a disease. Laparoscopic revolution was only because of gallstones diseases. The shifting of food habits increased the incidence of diseases in developing countries. There are mainly three types of stones Cholesterol, pigment and brown stones. The pathophysiology of which is different for each type. Cholesterol stones being most common owing to the risk factors being prevalent in the developing and developed societies. Pigment stones being most common in blood disorder patients while brown stones are most common in common bile duct and are infected ones.

A MATLAB model for diagnosing sickle cells and other blood abnormalities using image processing

<span lang="EN-US">The conventional method for detecting blood abnormality is time consuming and lacks the high level of accuracy. In this paper a MATLAB based solution has been suggested to tackle the problem of time consumption and accuracy. Three types of blood abnormality have been covered here, namely, anemia which is characterized by low count of red blood cells (RBCs), Leukemia which is depicted by increasing the number of white blood cells (WBCs), and sickle cell blood disorder which is caused by a deformation in the shape of red cells. The algorithm has been tested on different images of blood smears and noticed to give an acceptable level of accuracy. Image processing techniques has been used here to detect the different types of blood constituents. Unlike many other researches, this research includes the blood sickling disorder which is epidemic in certain regions of the world, and offers a more accuracy than other algorithms through the use of detaching overlapped cells strategy.</span>