A scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment.

Beta-thalassemia major (β-TM) is a genetic disorder, prevalent especially in the Mediterranean region, Southeast Asia, and the Indian subcontinent. With improvements in management over the years, β-TM has transitioned from a fatal childhood disease to a chronic condition. However, in Pakistan, there is still a lack of a comprehensive national policy and strategic plan, which has resulted in a growing number of β-TM patients, placing a substantial burden on individuals and the national healthcare system.

Molecular pathology and computational profiling of Janus kinase 2 (JAK2) mutation in acute lymphoblastic leukemia: insights from a Pakistani cohort.

Background: JAK2 mutation plays a clinically significant role in the pathogenesis of acute lymphoblastic leukemia (ALL) by enhancing its oncogenicity. The study aimed to characterize the molecular pathology and computational profile of the JAK2 mutation in an ALL cohort of Pakistani origin.

Methods: Ninety-three patients were enrolled in the current study.

Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

Background: Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid.

Case Report: We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia.

Exploring the perceptions and experiences of female's with ß-thalassemia major in a Tertiary Care Private Hospital in Pakistan.

Introduction: ß-Thalassemia, a genetic condition which influences both the physical and emotional facets of individuals specially females while also exerting substantial financial strain on families and healthcare systems. Recognizing the pivotal influence of social support, particularly on mental well-being, this study endeavors to delve into the shared psychosocial challenges experienced by females grappling with ß-thalassemia major.

Methods: Employing a qualitative-descriptive methodology and purposive sampling, this study conducted in-depth interviews with forty-two young girls, 18.

Antibiotic Stewardship: A Handshaking Strategy Among Physicians and Pharmacists to Improve therapeutic Outcomes in Hematology-Oncology.

Infections are highly susceptible in patients with hematological malignancies due to immune suppression, immunosuppressive therapies and disease progression. Rational use of antibiotics following Antimicrobial Stewardship (AMS) guidelines in early detection and response to infection is significant to improve patient care. The present study was conducted to determine the impact of clinical pharmacists' interventions (PIs) on antibiotics usage in hematology-oncology set up in Karachi, Pakistan.

Haematopoietic Stem Cell Transplant Trends in Pakistan: Activity Survey from Pakistan Bone Marrow Transplant Group.

Pakistan is the fifth most populous country with a population of 225 million and has health expenditure accounting for only 2.8 percent of gross domestic product (GDP). Accordingly, there are a limited number of haematology-oncology and transplant centers in the country.

Development of a Thalassemia International Prognostic Scoring System (TIPSS).

A prognostic scoring system that can differentiate β-thalassemia patients based on mortality risk is lacking. We analysed data from 3145 β-thalassemia patients followed through a retrospective cohort design for the outcome of death. An a priori list of prognostic variables was collected.

Evaluation of the combination therapy of hydroxyurea and thalidomide in β-thalassemia.

Transfusion-related complications and lack of resources in low-to-middle-income countries have led to a search for novel therapies to reduce the need for blood transfusions in patients with β-thalassemia. Hydroxyurea (HU) has demonstrated promising outcomes; additionally, thalidomide has also shown improvement in hemoglobin (Hb) levels for patients with β-thalassemia in some studies. This study presents the findings of a single-arm nonrandomized trial to evaluate the efficacy of combination therapy of HU and thalidomide in children with β-thalassemia.

Prenatal diagnosis of maternal serum from mothers carrying β-thalassemic fetus.

Background: This study focuses on the discovery of protein biomarkers from the maternal serum of β-thalassemic trait mothers carrying the normal fetus and β-thalassemic major fetus.

Methods: Serum samples from β-thalassemic trait mothers carrying major (N = 5) and normal fetuses (N = 5) were studied. The IVS1-5 thalassemia mutation was common among β-thalassemic trait mothers who were carrying a homozygous β-thalassemic fetus (IVS1-5/ IVS1-5 mutation) or a normal fetus (no mutation).

A Pragmatic Scoring Tool to Predict Hydroxyurea Response Among β-Thalassemia Major Patients in Pakistan.

Despite high prevalence and incidence of β-thalassemia in Pakistan, there is very limited work on the use of hydroxyurea (HU) in thalassemia patients in the country. This is the first insight regarding genetic profiling of BCL11A and HU responses in Pakistani β-thalassemia. It correlates single-nucleotide polymorphisms on BCL11A (rs4671393, rs766432) and HBG2 (XmnI), age at first transfusion, and β-globin mutations with HU response in β-thalassemia major (BTM).

Seasonal variations in hematological disorders: A 10-year single-center experience.

Aims: To assess the seasonal variations in hematological disorders among patients diagnosed on the basis of bone marrow biopsy, who attended National Institute of Blood Diseases (NIBD) clinics during 2006 to 2015.

Methods: We retrospectively reviewed the 10-year records of hematological disorders among patients' NIBD clinics from year 2006 to 2015. All cases of aplastic anemia (AA), acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), immune thrombocytopenic purpura (ITP), and acute promyelocytic leukemia (APML) were categorized on the basis of the seasons in which they were diagnosed such as winter (December-February), spring (March-May), southwest monsoon periods (June-September), and retreating monsoon period (October and November).

Incorporating a clinical oncology pharmacist into an ambulatory care pharmacy in pediatric hematology-oncology and transplant clinic: Assessment and significance.

Background: Beta thalassemia patients, post-bone marrow transplant, and leukemia patients require long term therapy with an intense care follow-up especially for pediatric hematology-oncology origin. Emergence of side effects and noncompliance to therapy lead to reduced efficacy of medicines resulting in relapse of diseases. There is an increasing fact to support the incorporation of a pharmacist into clinical team due to their distinctive skills.

Peripheral Blood Stem Cell Harvest HPC Count Is an Effective Surrogate Marker for CD34+ Cell Count in Allogeneic Stem Cell Transplant Setting.

Objective: We assessed the predictive potential of XN-HPC for CD34+ cell count as obtained through Sysmex automated hematology analyzers (XN-1000).

Methods: This study was conducted at the National Institute of Blood Diseases and Bone Marrow Transplantation in 84 donors between December 2012 and December 2017 in the first phase and later validated in 112 donors between December 2017 and December 2018. Sysmex XN-1000 and BD FACS Calibur estimated XN-HPC and CD34+ cells of peripheral blood apheresis product, respectively.

Antioxidant Activity and Oxidative Stress Status in Maternal Serum of β-thalassemic Mothers Carrying β-thalassemic Major and Normal Fetuses.

β-thalassemia is a genetic disorder characterized by reduction or absence of β-globin chain with mutations in both copies (β-thalassemia major) or in one copy (β-thalassemia minor). Pregnancies in β- thalassemic carrier women are considered symptom free but have risk of inheriting β-thalassemic fetuses. Current study was designed to compare oxidative stress and antioxidants status in maternal serum from β-thalassemic minor mothers having β-thalassemic major and normal fetuses.

Frequency of Alpha Thalassaemia in homozygous Beta Thalassaemia paediatric patients and its clinical impact at a blood disease centre in Karachi, Pakistan.

Objective: To find frequency ofalpha Thalsaemia nhomozygous beta Thalsaemia patients, and to se any difernce infrequency and age ofirst ransfusion and mean haemoglobin concentration.

Methods: The single-centred, escriptive cros-sectional study was conducted athe National Instiute of Blod Disease and Bone Marow Transplantaion, Karchi, from June 1,2012, to May 31, 2013. Patients of homozygous beta halsaemia, diagnosed by polymerase chain reaction, wer tested for coinheritance of alpha Thalsaemia nd foetal haemoglobin XMN1 polymorphism using polymerase chain reaction.

Hydroxyurea (hydroxycarbamide) for transfusion-dependent β-thalassaemia.

Background: Hydroxyurea (hydroxycarbamide) promotes the production of foetal haemoglobin (HbF) by reactivating gamma-genes. Evidence has shown clinical benefits of hydroxyurea in people with sickle cell anemia; however, only a few studies have assessed this treatment in people with beta (β)-thalassaemia.

Objectives: The primary objective is to review the efficacy of hydroxyurea in reducing or ameliorating the requirement of blood transfusions in people with transfusion-dependent β-thalassaemia.

Early and sustained deep molecular response achieved with nilotinib in high Sokal risk chronic myeloid leukemia patients.

Background: Nilotinib (Tasigna®) is a second-generation tyrosine kinase inhibitor that shows faster and deeper molecular responses (MR) in comparison to Imatinib as initial therapy in chronic phase chronic myeloid leukemia (CML). Efficacy and safety data for nilotinib in the Asian population is scarce, particularly in Pakistan. We aimed to determine the MR to nilotinib and its safety profile in patients with chronic phase CML.

Reflection of treatment proficiency of hydroxyurea treated β-thalassemia serum samples through nuclear magnetic resonance based metabonomics.

β-Thalassemia is a widespread autosomal recessive blood disorder found in most parts of the world. Fetal hemoglobin (HbF), a form of hemoglobin is found in infants, replaced by adult hemoglobin (HbA) after birth. Hydroxyurea (HU) is one of the most effective HbF inducer used for the treatment of anemic diseases.

Hydroxyurea Treated β-Thalassemia Children Demonstrate a Shift in Metabolism Towards Healthy Pattern.

Augmentation of fetal hemoglobin (HbF) production has been an enduring therapeutic objective in β-thalassemia patients for which hydroxyurea (HU) has largely been the drug of choice and the most cost-effective approach. A serum metabolomics study on 40 patients with β-thalassemia prior to and after administration of HU was done along with healthy controls. Treated patients were divided further into non-responders (NR), partial (PR) and good (GR) per their response.

Pharmacoproteomics Profiling of Plasma From β-Thalassemia Patients in Response to Hydroxyurea Treatment.

β-Thalassemia is a genetic disorder caused by defects in the β-globin gene resulting in the absence or reduced synthesis of adult hemoglobin (HbA). Hydroxyurea is an effective drug to increase fetal γ-globin (HbF) expression, replacing the missing adult β-globin. The mechanism of HbF induction by hydroxyurea and improvement in clinical symptoms are still poorly understood.

Detection of the Incidence of HBV, HCV Infection and Febrile Neutropenia Associated With CHOP With or Without Rituximab in Diffuse Large B-Cell Lymphoma-Treated Patients.

Reactivation of hepatitis B virus (HBV) and hepatitis C virus (HCV) and febrile neutropenia (FN) are common in diffuse large B-cell lymphoma (DLBCL) patients undergoing cyclophosphamide, hydroxyrubicin, Oncovin, and prednisolone (CHOP) or cyclophosphamide, hydroxyrubicin, Oncovin, prednisolone - rituximab containing (R-CHOP) chemotherapy. This ultimately leads to delaying the therapy, increasing hospital stay, and raising the pharmacoeconomic burden on patients. The aim of this study was to determine the incidence of HBV and HCV infection and febrile neutropenia in DLBCL patients treated with R-CHOP and CHOP.