https://imcjms.com Ibrahim Medical College Journal of Medical Science https://imcjms.com/registration/journal_full_text/375 Sat, 22 May 2021 02:46:04 +0000 Abstract Improved treatment has increased survival of patients with thalassemia. However, they still suffer from several endocrine complications mainly as a result of iron overload from multiple transfusions. Endocrinopathies manifest as early as the first decade of life, affecting growth, puberty, psychological development and quality of life. The presence of concomitant anemia, chronic liver disease and cardiomyopathy affect the development and treatment of endocrine disorders, making endocrinopathies in thalassemia a complex disorder.  This review focuses on the pathogenesis, diagnosis and treatment of endocrinopathies in transfusion and non transfusion dependent thalassemia. The main points that should be considered in the management of endocrine disorders in a patient with thalassemia are highlighted in this review. IMC J Med Sci 2021; 15(1): 008.  OPEN ACCESS. DOI: https://doi.org/10.3329/imcjms.v15i1.54202 *Correspondence: Tahniyah Haq, Department of Endocrinology, Room 1620, 15th Floor, Block D, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka 1000, Bangladesh. Email: tahniyah81@gmail.com   Introduction Thalassemia can be classified depending on the need for transfusion. Non-deletional HbH, β – thalassemia major and severe HbE/β-thalassemia  require regular blood transfusions and are classified as transfusion dependent thalassemia (TDT) [3]. Patients with TDT suffer from iron overload and require aggressive chelation therapy. Endocrine complications are more prevalent and serious in these individuals. On the other end of the spectrum are the non-transfusion dependent thalassemia (NTDT) (α –thalassemia trait, β –thalassemia minor, mild and moderate HbE/β –thalassemia, HbC/β-thalassemia and deletional HbH disease) [3]. Since they have mild disease and do not require regular transfusions, there is less organ damage due to iron deposition. However, endocrinopathies can still occur in NTDT and regular screening is advised. Although endocrinopathies are the third most common cause of death in patients with TM [4], only a half of them consult an endocrinologist [5]. Treatment of endocrinopathies in thalassemia is complex due to multisystem involvement and lack of appropriate guidelines. Collaboration between hematologist, endocrinologist, hepatologist, cardiologist and gynecologist is therefore central to the management of this disorder. In this review, we describe the pathogenesis, diagnosis and treatment of endocrinopathies in thalassemia, with emphasis on TDT.   Pathogenesis In thalassemia, similar to other organs such as liver and heart, iron overload damages endocrine glands. Excess iron accumulation results from repeated blood transfusions and increased iron absorption due to ineffective erythropoesis. This leads to increased intracellular and extracellular iron deposition, which trigger a cascade of events culminating in cell damage primarily through generation of reactive oxygen species (Figure-1) [3,6-8].As a consequence, several endocrine glands are affected resulting in different types of endocrinopathies. Figure-2 briefly depicts the different endocrinopathies in thalassemia, their important contributing factors and parameters for assessment.   Figure-1: Pathogenesis of iron toxicity in thalassemia. GDF 15 - growth differentiation factor 15, NTBI - non-transferring bound iron, IL -  interleukin, TNF - tissue necrosis factor [3,6-8].   There are a multitude of endocrine disorders in TDT, with pituitary disorders being the most common. 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