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.

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.

Hepatitis-associated aplastic anaemia: surveillance of frequency,clinico-haematological features, and demographic distribution at a tertiary care hospital in Pakistan.

Objective: We aim to document the frequency of HAAA cases among AA patients presenting at a tertiary care hospital, and to determine the most common agents (viral/drug induced) and Clinico-haematological features among HAAA patients at a tertiary care hospital.

Methods: This study was a retrospective review, conducted at a tertiary care hospital in Karachi, Pakistan.

Results: A total of 21 patients were included in the study.

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.