Thalassemia: A Review of the Challenges to the Families and Caregivers (original) (raw)
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Navigating the Medical and Therapeutic Challenges in Thalassemia: A Comprehensive Analysis
International Journal of Enhanced Research in Medicines & Dental Care (IJERMDC), 2023
Thalassemia is a blood disorder, characterized by an excessively low haemoglobin count. It is an inherited and congenital condition that manifests from birth and persists throughout life, as it is largely incurable. Individuals with Thalassemia depend on lifelong blood transfusions for survival, a necessity that brings about a multitude of health complications and co-morbidities. Among these challenges, the most perilous is the deposition of excessive iron in the body, affecting crucial organs. The physical hardships experienced by individuals with Thalassemia are exacerbated by significant therapeutic challenges. These challenges include ensuring a consistent and accessible supply of high-quality medications, reliable access to blood transfusions, and constraints related to accessing specialized healthcare professionals. Timely availability of essential medicines, a secure blood donation system, and improved access to specialized medical care are essential components in addressing these therapeutic challenges associated with Thalassemia. Collaboration between healthcare providers, policymakers, and advocacy groups is vital for implementing effective solutions. The present study attempts to analyse the multifaceted and intricate forms of therapeutic and medical challengesencountered by the Thalassemia Patients in the course of management of Thalassemia. Keywords: Disability, Burden, Exclusion, Thalassemia, Blood Disorders, Genetic Disorder, Medical, Rare Disability, Public Policy, Stigma, Awareness, Discourse, Paediatrics, Internal Medicine, Blood, Sickle Cell, Haematology, Quality of Life, RPwD Act
Thalassemia intermedia today: should patients regularly receive transfusions?
Transfusion, 2007
beta-Thalassemia is an inherited hemoglobin disorder characterized by reduced synthesis of beta-globin chain. The severity of clinical course distinguishes this heterogeneous disease in two main subtypes: thalassemia major (TM) and thalassemia intermedia (TI). TI has a later clinical onset with a milder anemia that does not require transfusions at least during the first few years of life. The clinical picture of TI patients who have not received transfusions or have occasionally received transfusions is dominated by the consequences of chronic hemolytic anemia, tissue hypoxia, and their compensatory reactions, such as bone deformities and fractures, extramedullary hemopoiesis, spleen and liver enlargement, hypercoagulability, and pulmonary hypertension. These complications, especially the latter two, are getting more frequent and severe over the years. Nowadays, although TI patients have almost no changes in the course of the disease, well-treated TM patients with regular transfusio...
Update on Thalassemia: Clinical Care and Complications
Hematology/Oncology Clinics of North America, 2010
b-Thalassemia, originally named Cooley anemia, initially was described by Dr Cooley in 1925 in Detroit as an inherited blood disease. 1 It is speculated that thalassemia was first recognized in the United States and not in its area of highest prevalence (the Mediterranean) because its presentation as a distinct clinical entity was masked by the fact that malaria, with its similar clinical picture of hemolysis, anemia, and splenomegaly, was ubiquitous in that region. 1 Thus, patients who had this clinical triad were assumed to have malaria, not thalassemia. 1 Now it is recognized that various types of thalassemia are inherited anemias caused by mutations at the globin gene loci on chromosomes 16 and 11, affecting the production of a-or b-globin protein, respectively. 2,3 The thalassemia syndromes are named according to the globin chain affected or the abnormal hemoglobin produced. Thus, b-globin gene mutations give rise to b-thalassemia and a-globin mutations cause a-thalassemia. In addition, the thalassemias are characterized by their clinical severity (phenotype). Thalassemia major (TM) refers to disease requiring more than eight red blood cell (RBC) transfusions per year and thalassemia intermedia (TI) to disease that requires no or infrequent transfusions. 4 Thalassemia trait refers to carriers of mutations; such individuals have microcytosis and hypochromia but no or only mild anemia. 5,6 Untreated TM uniformly is fatal in the first few years of life. 1 In addition, TM and severe TI can lead to considerable morbidity affecting nearly all organ systems. 7-9 The combination of early diagnosis, improvements in monitoring for organ complications, and advances in supportive care, however, have enabled many patients who have severe thalassemia syndromes to live productive, active lives well into adulthood. 9-11 EPIDEMIOLOGY Similar to sickle cell disease and G6PD deficiency, the high prevalence of a-and b-thalassemia genotypes is believed a consequence of an evolutionary protection of
Knowledge, practice and experiences of parents with a thalassemic child
International Journal of Contemporary Pediatrics, 2017
Background: Thalassaemia is a chronic disorder requiring lifelong transfusions and medications causing emotional and financial burden to the family. This study was done to assess the knowledge and awareness of parents having a thalassemic child and to ameliorate their experiences in the upbringing of their child.Methods:A cross sectional, descriptive study was conducted in Pediatric Ward of a Tertiary care Hospital in Navi Mumbai from May-August 2016 in which parents of 40 beta Thalassemia major children between age group of 6 months to 15 years were enrolled. Parents were interviewed through a questionnaire to assess their knowledge, awareness, the practices they follow in regard to the transfusion, treatment, vaccination and prevention of thalassemia. The study also focuses on the emotional suffering of the parents.Results: 47.5% of parents were aware of thalassemia being a genetic disorder.62.5% were aware of regular blood transfusion. 23 parents were aware of the regular medicat...
New Strategies in the Treatment of the Thalassemias
Annual Review of Medicine, 2005
In addition to the severe beta thalassemias, hematologists have begun to recognize the more severe forms of alpha thalassemia, namely hemoglobin (Hb) H disease and Hb H/Hb Constant Spring, as well as the beta compound heterozygote, beta thalassemia/HbE. Clinically, variably severe anemia becomes apparent in the first year accompanied by occasionally massive expansion of erythropoiesis. The most anemic patients require regular red blood cell transfusions to avoid death from cardiac failure. However, the inevitable iron accumulation leads to dysfunction, primarily involving the heart, liver, and endocrine system; thus, regularly transfused patients require iron chelation. A major discovery was that allogeneic bone marrow (stem cell) transplantation in severely affected subjects with both alpha and beta thalassemia could result in cure. Current work deals with specific complications, such as iron overload and endocrine, cardiopulmonary, thrombophilic, and osteopenic problems. The thalassemias are likely to benefit in the future from specific gene therapy. There are also important advances in genetic counseling based on results of early fetal diagnosis.
Blood Advances
Background Pakistan is among the countries with a high prevalence of b-thalassemia, with a b-thalassemia gene frequency of 5% to 8% and ;5000 new cases diagnosed each year. In Pakistan, the mean annual expenditure for managing disease in a child with thalassemia is US$4500, which is much more than the per capita income in Pakistan. Objectives c To prevent thalassemia major (TM) by extended family screening and chorionic villus sampling (CVS). c To produce a national protocol for iron chelation and safe blood transfusion in patients with TM. c To investigate hemoglobin F (HbF) augmenting agent in TM patients to reduce the requirement for a blood transfusion. c To discover primary and secondary genetic modifiers as a primary screening test for treatment with HbF augmenting agent. c To establish the role of proteomics and metabolites as markers for response to hydroxyurea (HU) therapy. c To establish bone marrow transplantation (BMT) centers throughout Pakistan to cure TM. Material and Methods Capacity Building c Doctors, nurses, laboratory technicians, and blood banking staff were trained. c A dedicated research department was built whose staff consisted of clinical research associates, study coordinators, and an epidemiologist.
2021
Thalassemia is a hereditary blood disorder which is passed down through families in which the body makes an abnormal form of hemoglobin. This disorder results in the destruction of red blood cell in large number, which leads to anemia. It is caused by mutation in the DNA of cells that make hemoglobin. Thalassemia should be prevented by premarital screening and prenatal diagnosis which is helpful in decreasing prevalence and future incidence of thalassemia. The most important problem in thalassemia patients are iron overload, cardiac arrhythmia, hepatitis, osteoporosis and endocrine disorder however there are typical signs and symptoms of anemia. People with thalassemia can get treatment as indicated by the degree of seriousness of their condition. Blood transfusion is the common treatment for thalassemia. This review presents the types, diagnosis, prevalence, complications and treatment of thalassemia.