This episode 2 of this blog follows on from Episode 1 on sickle cell. Sickle cell and thalassaemia have similar characteristic on individuals’ health and similar pain management with occupational therapy perspective.
Thalassaemia awareness is important because it is one of the most common inherited haemoglobin disorders worldwide. It represents a significant, yet often under‑recognised, global health burden. More than 1 million people have non-transfusion-dependent thalassemia, while more than 100,000 people have transfusion-dependent thalassemia (Boston children hospital. Thaalssaemia, 2025-2026) affecting especially people from Mediterranean, south Asian, southeast Asian and Middle Eastern origin (NHS, 2022). 40,000–60,000 infants are born each year with severe forms requiring lifelong blood transfusions medical intervention (How many people have thalassemia, 2025). This causes a substantial demand on individuals, families, and healthcare systems.
What is thalassaemia
Thalassemia is a group of inherited blood disorders that affect the body’s ability to produce haemoglobin, the protein in red blood cells responsible for carrying oxygen. When haemoglobin production is reduced or abnormal, the body cannot make healthy red blood cells effectively. This leads to chronic anaemia and a range of associated health problems. This makes it one of the major public health challenges.
What causes thalassaemia
Thalassaemia arises from mutations that reduce or completely halt the production of normal α‑ or β‑globin chains, resulting in a quantitative defect in haemoglobin synthesis (Thalassaemia arises from mutations that reduce or completely halt the production of normal α‑ or β‑globin chains) (Sadiq et al., 2024). This impaired globin production leads to ineffective erythropoiesis, chronic anaemia, and increased destruction of red blood cells (Sadiq et al., 2024).
Physical and Medical Impacts
Pain mechanisms in thalassaemia
Pain in thalassaemia is multifactorial, arising from both the primary disease process and its complications. Thalassaemia is not classically defined as a pain disorder. However, many individuals experience chronic and sometimes severe pain that affects daily functioning (Lal, 2016).
Bone pain and skeletal complications
One of the most common sources of pain is bone disease, which results from the extensive marrow expansion that occurs in response to chronic anaemia (Piga, 2017). As the marrow cavity enlarges, it disrupts normal bone architecture, causing cortical thinning, trabecular destruction, and skeletal deformities. These changes lead to persistent bone pain, increased fracture risk, and spinal abnormalities. (Piga, 2017) notes that bone pain and skeletal deformities are hallmark features of thalassaemia and contribute significantly to morbidity (Vogiatzi et al., 2009).
Iron overload–related pain
Iron overload contributes to pain through its toxic effects on bone and endocrine function. Excess iron disrupts normal bone metabolism by inhibiting osteoblast activity and promoting osteoclast‑mediated bone resorption (Rossi et al., 2014). This imbalance leads to osteoporosis, fragility fractures, and chronic musculoskeletal pain. Iron deposition in endocrine organs can also cause hypogonadism and hypothyroidism. Both of these worsen bone disease and pain (Meng et al., 2013).
Chelation therapy–associated pain
Iron chelation therapy, while essential for preventing organ damage, can itself contribute to pain. Deferoxamine has been associated with bone dysplasia and metaphyseal changes, deferiprone can cause arthropathy, and deferasirox may lead to renal complications that indirectly contribute to musculoskeletal discomfort (Mobarra et al., 2016). These treatment‑related effects add another layer to the pain burden experienced by patients.
Neuropathic pain
Skeletal deformities, vertebral compression, and nerve impingement, particularly in the spine can lead to neuropathic pain syndromes (Piga, 2017). These may manifest as shooting, burning, or radiating pain and can significantly impair mobility and quality of life.
Growth and developmental problems
Thalassaemia has been found to affect the physical development and overall health of affected children. One of the most visible consequences of inadequately managed thalassaemia in childhood is delayed growth and development (Singh & Seth, 2017). Chronic anaemia deprives tissues of the oxygen they need for normal growth, causing children to fall behind their peers in height and weight. Poor feeding is also common, as fatigue, abdominal discomfort, and reduced appetite make it difficult for children to consume enough nutrients to support healthy development (Goldberg et al., 2022). Additionally, the enlargement of organs such as the liver and spleen caused by the body’s attempt to increase blood cell production can lead to abdominal swelling. This not only affects physical appearance but may also cause discomfort and further reduce appetite, creating a cycle that worsens nutritional deficiencies (Goldberg et al., 2022).
Beyond early childhood, thalassaemia can significantly disrupt puberty and reproductive health. The hormonal system is particularly sensitive to the effects of chronic illness and iron overload (Cappellini). Excess iron, often a result of repeated blood transfusions, accumulates in vital organs, including the endocrine glands responsible for producing growth and reproductive hormones (Ngim et al., 2017). As a result, many adolescents with poorly controlled thalassaemia experience delayed puberty, with the onset of secondary sexual characteristics occurring later than expected. In more severe cases, iron deposition in the pituitary gland and gonads can impair hormone production to the extent that fertility is reduced in adulthood.
Psychological and emotional impacts
One of the most commonly reported emotional consequences is anxiety, which may stem from uncertainty about health outcomes, fear of medical procedures, or concerns about long‑term complications (Tarım & Öz,2022). Children often experience anticipatory anxiety before transfusions, while adolescents and adults may worry about their future independence, employment, and relationships. Studies indicate that anxiety levels in thalassaemia patients are significantly higher than in the general population (Yengil et al., 2014).
In addition to anxiety, depression is frequently observed among individuals living with thalassaemia. The chronic nature of the disease, combined with physical limitations and social stigma, can lead to feelings of sadness, hopelessness, and emotional fatigue. Research highlights that depressive symptoms are more prevalent in patients who experience complications such as iron overload or delayed growth and puberty (Mardhiyah et al., 2023). These emotional burdens can interfere with daily functioning, academic performance, and social engagement.
Body image concerns also play a significant role in the emotional experience of thalassaemia patients. Physical changes such as short stature, delayed puberty, or bone deformities can negatively affect self‑esteem, especially during adolescence. Young people may feel different from their peers, leading to social withdrawal or reduced confidence. According to psychological assessments, adolescents with thalassaemia often report lower self‑concept scores compared to healthy peers (Mazzone et al., 2009).
The condition also affects social relationships, as frequent hospital visits and fatigue can limit participation in school, work, and social activities. Some patients report feeling isolated or misunderstood, which can intensify emotional distress (Tarım & Öz, 2022). Family dynamics may also be affected; parents often experience guilt or anxiety, while children may feel overprotected or burdened by their condition (Wangi et al., 2025).
Conclusion
The pathophysiology of thalassaemia is driven by globin chain imbalance, ineffective erythropoiesis, haemolysis, and iron overload, all of which contribute to the systemic complications of the disease. Pain in thalassaemia arises from bone marrow expansion, skeletal deformities, iron toxicity, treatment‑related complications, and neuropathic mechanisms. Although often overshadowed by other clinical features, pain is a significant and under‑recognised aspect of thalassaemia that profoundly affects quality of life. A deeper understanding of these mechanisms is essential for improving patient care, guiding treatment decisions, and addressing the full spectrum of challenges faced by individuals living with thalassaemia.
About the Author
I’m Sialou, a final-year MSc Occupational Therapy student currently on placement with JB Occupational Therapy. I focused on sickle cell and thalassaemia two inherited blood disorder, through this blog to raise awareness of the negative impact on health for individuals living with either of both disorders. As a person living with sickle cell, I aim to reflect lived experience through an occupational therapy lens.
Helpful thalassaemia links for more information
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0303 303 0303
https://www.facebook.com/AnthonyNolan
- General enquiries: +44 (0) 2088820011
- Email enquiries: office@ukts.org
- Office address: UK thallasaemia society, 19 the Broadway, Southgate Circus, London N14 6PH
Sickle Cell & Thalassaemia Support Project: https://www.sctsp.org.uk/
- Tel: 01902444076
- Email: info@sctsp.org.uk
- Community Family Support Service by SCTSP: 01902382288
- Admin: admin.fss@sctsp.org.uk
- Address: Sickle Cell & Thalassemia Support Project. Paycare House, George Street, Wolverhampton, WV2 4DX
