Assessment of Quality of Life in Thalassemic Patients at Assiut University Hospital: A Single-center Experience

Overview

The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains \[1\]. Thalassemia are classified into the alpha (α) and (β) thalassemia, which contain deficits in (α) and (β) globin production respectively (α)thalassemia are caused by decreased production of alpha-globin chains from chromosome 16. There are 4 types of (α) thalassemia: thalassemia silent carrier thalassemia carrier . Hemoglobin H disease thalassemia major Beta-thalassemia are caused by point mutations or more rarely deletions in the β-globin gene on chromosome 11, leading to reduced (β+) or absent (β0) synthesis of the β chains of hemoglobin. Imbalances of globin chains cause hemolysis and impair erythropoiesis \[4-7\]. β-thalassemia can be classified into: Beta Thalassemia major, Beta Thalassemia intermedia, Beta Thalassemia minor Thalassemia is a chronic disease that presents a range of serious clinical and psychological challenges. The effects of thalassemia on physical health can lead to physical deformity, growth retardation, and delayed puberty \[9, 10\]. Its impact on physical appearance, e.g., bone deformities and short stature, also contributes to a poor self-image \[10, 11\]. Severe complications such as heart failure, cardiac arrhythmia, liver disease, endocrine complications, and infections are common among thalassemia patients \[8, 12\].

The problems mentioned do not only affect patients' physical functioning but also their emotional functioning, social functioning and school functioning, leading to impaired Health-related quality of life (HRQOL) of the patients \[13\]. QOL is a phrase used to refer to an individual's total wellbeing. This includes all emotional, social, and physical aspects of the individual's life. Health-related quality of life (HRQOL) Moreover, the term health-related quality of life (HRQOL) is often described as: "A term referring to the health aspects of quality of life, generally considered to reflect the impact of disease and treatment on disability and daily functioning; it has also been considered to reflect the impact of perceived health on an individual's ability to live a fulfilling life.\[18-19\] HRQOL is comprised of a number of dimensions of influence. Seven are commonly agreed upon 1. Physical well-being: the experience of physical symptoms such as pain, dyspnea, or nausea. 2. Functional well-being: the ability to participate in normal daily activities such as work and leisure pursuits. 3. Emotional well-being: this is comprised of both positive affective states (e.g. happiness, peace of mind) and negative affective states (e.g. sadness, anxiety). 4. Family well-being: the ability to maintain family relationships and communication. 5. Social functioning: the ability to participate and enjoy social roles and activities.\[20\] 6. Treatment satisfaction: including financial concerns. 7. Sexuality/intimacy: including concerns about body image.