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Varna Medical Forum

Endocrine abnormalities in thalassemia major

Elena Marinova, Radina Dimitrova

Abstract

Thalassemia major (TM) is a genetic disease with a quantitative change in the synthesis of hemoglobin causing chronic hemolysis. Regular hemotransfusions, which are the mainstream of the treatment of the disorder lead to side effects due to iron deposition in the parenchymal organs. The endocrine system is one of the earliest affected. Growth retardation, hypogonadism, hypoparathyroidism, hypothyroidism, and diabetes mellitus are observed. Heart involvemnt presenting with rhythm disorders, thalassemia-specific cardiomyopathy, liver damage-fibrosis and cirrhosis are other organ damages as a result of iron overload. Early diagnosis with chelation therapy and the good response to that therapy can slow down the progression of endocrine, cardiac and liver complications. It is of crucial importance to have early diagnosis of subclinical abnormalities in the endocrine function, which can only be obtained with extensive diagnostic search.

Keywords

thalassemia, growth, hypogonadism, hypothyroidism, hypoparathyroidism, diabetes

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References

Bernini L. Geographic distribution of alpha- thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, ed.Disorders of Haemoglobin. First edition. Cambridge,2001:878-94

Capellini MD, Cohen A, Porter J, Taher A, Viprakasit V, Guidelines for the treatment of transfsion dependent talassemia (TDT), 3rd edition 2014

Kremastinos DT, Farmakis D, Aessopos A, Hahalis G, Hamodraka E, Tsiapras D, Keren A. Beta-thalassemia cardiomyopathy: history, present considerations, and future perspectives. Circ Heart Fail 2010

Димова М., Каназирев Б., Златева В., Калева В., Герчева Св., Петрова Кр., Епидемиология и патофизиология на сърдечно-съдовото засягане при пациенти с бета-таласемия майор, Наука Кардиология, брой 2, 2017

Galanello R, Origa R. Beta-thalassemia. Orphanet Journal of Rare Diseases 2010, 5:11 10.1186/1750-1172-5-11.

Engle MA, Erlandson M, Smith CH. Late cardiac complications of chronic, refractory anemia with hemochromatosis. Circulation. 1964,698–705

Borgna-Pignatti C, Rugolotto S, De Stefano P, Piga A, Di Gregorio F, Gamberini MR, Sabato V, Melevendi C, Cappellini MD, Verlato G. Survival and disease complications in thalassemia major. Ann N Y Acad Sci. 1998;850:227–231

Димова М., Каназирев Б., Златева В., Калева В., Герчева Св., Петрова Кр. Бета-Таласемия и маркери за ранно сърдечно-съдово засягане, Наука Кардиология , брой 3, 2017

Димова М., Каназирев Б., Златева В., Калева В., Герчева Св., Петрова Кр., Николова С., Ранна диагноза на левокамерна дисфункция при пациенти с бета-Таласемия Майор чрез тъканен Доплер, стрейн и стрейн рейт , Наука Кардиология , брой 3, 2017год.

Branimir Kanazirev, Maria Dimova, Valeria Kaleva, Svetlana Gercheva, Kristina Petrova, Vesela Zlateva, Yana Bocheva, Silvia Nikolova, Karen Hadjolyan, Early identification of heart failure in patients with thalassemia major by NT-pro-BNP examination. Correlation with echocardiographic parameters of morphology and function, International Journal of Medical and Health Research, vol3, iss. 12, 2017

Derchi G, Formisano F, Balocco M, Galanello R, Bina P, Dessì C, Piga A, Donato G, Cappellini M, Cassinerio M, Quarta G, Melpignano A, Forni GL; Clinical management of cardiovascular complications in patients with thalassaemia major: a large observational multicenter study. Eur J Echocardiogr 2011; 12 (3): 242-246.

Димова М, Каназирев Б, Калева В, Герчева С, Петрова К, Златева В, Бочева Я, Николова С, Хемодинамични и ехокардиографски показатели на систолна функция при пациенти с Таласемия майор в сравнение с контроли., сп. Българска Кардиология бр. 1/2018 (40-44)a

Димова М, Каназирев Б, Калева В, Герчева С, Петрова К, Златева В, Бочева Я, Николова С, Показатели на диастолна функция и биохимични показатели – сравнение на пациенти с Таласемия Майор и здрави контроли, сп. Българска Кардиология бр. 1/2018 (45-50)

Ngim C, Lai N, Hong JYH, Tan S, Ramadas A, Muthukumarasamy P, Thong M. Growth hormone therapy for people with thalassaemia. Cochrane Database of Systematic Reviews 2017, Issue 9. Art. No.: CD012284. DOI: 10.1002/14651858.CD012284.pub2

Andreas Kyriakou, MD and Nicos Skordis, MD Thalassaemia and Aberrations of Growth and Puberty, Mediterr J Hematol Infect Dis. 2009; 1(1): e2009003. Published online 2009 Jul 27. doi: 10.4084/MJHID.2009.003

Meng‐Ju Li MD Steven Shinn‐Forng Peng MD Meng‐Yao Lu MD Hsiu‐Hao Chang PhD Yung‐Li Yang PhD Shiann‐Tarng Jou PhD Dong‐Tsamn Lin MD Kai‐Hsin Lin MD Diabetes mellitus in patients with thalassemia major. Pediatr Blood Cancer 2014;61:20–24. © 2013 Wiley Periodicals, Inc.

Bazi A, Sharifi-Rad J, Rostami D, Sargazi-Aval O, Safa A. Diabetes Mellitus in Thalassaemia Major Patients: A Report from the Southeast of Iran. J Clin Diagn Res. 2017;11(5):BC01-BC04.

Karuppiah D1, Evaluation and management of diabetes in patients with thalassaemia major, Journal of the Ceylon College of Physicians, 2015, 46, 39-41

Athanasios Zervas, Anna Katopodi, Anthi Protonotariou, Sarantis Livadas, Markesia Karagiorga, Constantina Politis, and George Tolis, Assessment of Thyroid Function in Two Hundred Patients with β-Thalassemia Major, Thyroid 2002 12:2, 151-154

Rindang C, Batubara J, Amalia P, Satari H. Some aspects of thyroid dysfunction in thalassemia major patients with severe iron overload. PI [Internet]. 30Apr.2011 [cited 26Jan.2019];51(2):66-2. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/889

Vincenzo De Sanctis, Ashraf Soliman, Saveria Campisi,Mohamed Yassin, Thyroid Disorders In Thalassaemia: An Update, Current Trends in Endocrinology Vol. 6, 2012

Pitrolo,L.,Malizia, G., Lo Pinto, C., Malizia, V.and Capra , M. 2004, Pediatr.Endocrinol.Rev.,2(2),313-315

Basha N KP, Shetty B, Shenoy UV. Prevalence of Hypoparathyroidism (HPT) in Beta Thalassemia Major. J Clin Diagn Res. 2014;8(2):24-6.

Huang KE, Mittelman SD, Coates TD, Geffner ME, Wood JC. A significant proportion of thalassemia major patients have adrenal insufficiency detectable on provocative testing. J Pediatr Hematol Oncol. 2015;37(1):54-9.




DOI: http://dx.doi.org/10.14748/vmf.v8i1.5795

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