Thalassemia

OT Dude Academy’s Free NBCOT® Exam Prep Course Hematology Thalassemia
  • Considered one of the most common genetic disorders in the world besides sickle cell disease.1 
  • Shortened life expectancy. Well-managed patients may survive into the fifth decade.2 
  • Two major types – based on defects in the genes
    • α-thalassemia
    • β-thalassemia
  • Gene mutations or deletions cause abnormal hemoglobin formation resulting in asymptomatic to severe anemia.3 
  • Results in death in utero, shortly after birth, or serious complications including liver damage, cardiac disease, and endocrine dysfunction.4 5 
  • Complications1 
    • Stunted growth
    • Hypothyroidism and hypoparathyroidism
    • Liver disease
    • Gallstones
    • Poor musculature
    • Diabetes
    • Leg ulcers
    • Osteoporosis
    • Heart failure, arrhythmias
    • Venous and arterial thrombosis
    • Hypogonadism – arrested puberty or total absence of sexual development
    • Infections
    • Poor performance was found in adults with β-thalassemia for neurocognitive testing: abstract reasoning, executive function, attention, processing speed, language abilities, memory, and visual-constructional skills.6  Another study found that Performance IQ was significantly lower in β-thalassemia major children.7 
    • Psychological problems
    • Decreased quality of life
  • Treatment: regular transfusion, iron chelation therapy, stem cell transplantation.8 
    • For children with significant neurocognitive functional impairment, classification and services may be possible under the Individuals with Disability Education Act (IDEA).6 
  • Occupational barriers and Psychosocial issues
    • Career problems
    • Finding partners
    • Family establishment due to infertility
    • Social support
    • 80% of children are likely to have psychological problems, e.g., oppositional defiant disorder, anxiety disorders, and depression.9 10 11 
    • Findings suggest that children with thalassemia are at an increased risk of psychosocial problems and that psychosocial intervention may be required to prevent major psychiatric disorders.12 
  1. Borgna-Pignatti, C., & Gamberini, M. R. (2011). Complications of thalassemia major and their treatment. Expert review of hematology, 4(3), 353-366.[↩][↩]
  2. Aydinok, Y., Erermis, S., Bukusoglu, N., Yilmaz, D., & Solak, U. (2005). Psychosocial implications of thalassemia major. Pediatrics International, 47(1), 84-89.[↩]
  3. Lai, K., Huang, G., Su, L., & He, Y. (2017). The prevalence of thalassemia in mainland China: evidence from epidemiological surveys. Scientific reports, 7(1), 1-11.[↩]
  4. Casale, M. et al. Multiparametric Cardiac Magnetic Resonance Survey in Children With Thalassemia Major: A Multicenter Study. Circ Cardiovasc Imaging 8, e003230, doi:10.1161/CIRCIMAGING.115.003230 (2015).[↩]
  5. Kurtoglu, A. U., Kurtoglu, E. & Temizkan, A. K. Effect of iron overload on endocrinopathies in patients with beta-thalassaemia major and intermedia. Endokrynol Pol 63, 260–263 (2012).[↩]
  6. MONASTERO, R., G. MONASTERO, C. CIACCIO, et al. 2000. Cognitive deficits in beta-thalassemia major. Acta Neurol. Scand. 102: 162–168.[↩][↩]
  7. Raafat, N., Safy, U. E., Khater, N., Hassan, T., Hassan, B., Siam, A., … & Shabrawy, A. E. (2015). Assessment of cognitive function in children with beta-thalassemia major: a cross-sectional study. Journal of child neurology, 30(4), 417-422.[↩]
  8. Pan, H. F. et al. Current status of thalassemia in minority populations in Guangxi, China. Clin Genet 71, 419–426, doi:10.1111/j.1399-0004.2007.00791.x (2007).[↩]
  9. Beratis S. Psychosocial status in pre-adolescent children[↩]
  10. Tsiantis J, Dragonas Th, Richardson C, Anastasopoulos D, Masera G, Spinetta J. Psychosocial problems and adjustment
    of children with beta-thalassemia and their families. Eur Child Adolesc Psychiatry 1996; 5(4): 193-203.[↩]
  11. Sadowski H, Kolvin I, Clemente C, Tsiantis J, Baharaki S, Ba G. Psychopathology in children from families with blood disorders: a cross-national study. Eur Child Adolesc Psychiatry 2002; 11: 151-161.[↩]
  12. Louthrenoo, O., Sittipreechacharn, S., Thanarattanakorn, P., & Sanguansermsri, T. (2002). Psychosocial problems in children with thalassemia and their siblings. Journal of the Medical Association of Thailand= Chotmaihet thangphaet, 85(8), 881-885.[↩]
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