Abstract
Growth, sexual development, fertility, bone mineral density, diabetes mellitus, hypothyroidism, hypoparathyroidism, and hypoadrenalism are the main issues to be addressed in the long-term follow-up of patients with thalassemia. During childhood, growth may be affected by anemia, and other potential endocrine complications. Puberty is the stage of the maximal growth insult. Beta thalassemia is associated with bone abnormalities characterized by bone marrow expansion of the medullary cavity, and osteopenia with cortical thickening and trabecular coarsening. Good nutrition with adequate vitamins and trace elements intake, along with calcium and vitamin D supplementation, can increase bone density and prevent bone loss. Endocrine abnormalities should be monitored carefully and a thorough endocrine evaluation should be carried out yearly in every patients to detect subclinical endocrinopaties.
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Cooley T.B., Lee P. A series of cases of splenomegaly in children with anemia and peculiar bone changes. Trans. Am. Pediatr. Soc. 1925, 37: 29–30.
Weatherall D.J. The thalassemias. In: Stamatoyannopoulos G., Nienhuis A.M., Majerus P.H., Varmus H., (Eds.), The molecular basis of blood diseases, ed. 2. W.B. Saunders, Philadelphia, 1994, p. 157.
Olivieri N.F. Medical progress: the (beta)-thalassemias. N. Engl. J. Med. 1999, 341: 99–109.
Cazzola M., Bornga-Pignatti C., Locatelli F., Ponchio L., Beguin Y., De Stefano P. A moderate transfusion regimen may reduce iron loading in (beta)-thalassemia major without producing excessive expansion of erythropoiesis. Transfusion 1997, 37: 135–140.
Olivieri N.F., Brittenham G.M. Iron-chelating therapy and the treatment of thalassemia. Blood 1997, 89: 739–761
Italian Working Group on Endocrine Complications in Non-endocrine Diseases. Multicentre study on prevalence of endocrine complications in thalassaemia major. Clin. Endocrinol. (Oxf.) 1995, 42: 581–586.
Garcia-Mayor R.V., Andrade Olivie A., Fernandez Catalina P., Castro M., Rego Iraeta A., Reparaz A. Linear growth in thalassemic children treated with intensive chelation therapy. A longitudinal study. Horm. Res. 1993, 40: 189–193.
Olivieri N.F., Koren G., Harris J., Khattak S., Freedman M.H., Templeton D.M., Bailey J.D., Reilly B.J. Growth failure and bony changes induced by deferoxamine. Am. J. Pediatr. Hematol. Oncol. 1992, 14: 48–56.
Arcasoy A., Cavdar A., Cin S., Erten J., Babacan E., Gozdasoglu S., Akar N. Effects of zinc supplementation on linear growth in beta-thalassemia (a new approach). Am. J. Hematol. 1987, 24: 127–136.
Theodoridis C., Ladis V., Papatheodorou A., Berdousi H., Palamidou R., Evagelopoulou C., Athanassaki K., Konstantoura O., Kattamis C. Growth and management of short stature in thalassaemia major. Pediatr. Endocrinol. Metab. 1998, 11: 835–844.
Soliman A.T., EI Banna N., Ansari B.M. GH response to provocation and circulating IGF-1 and IGF-binding protein-3 concentrations, the IGF-1 generation test and clinical response to GH therapy in children with beta-thalassaemia. Eur. J. Endocrinol. 1998, 138: 394–400.
Leger L., Girot R., Crosnier H., Postel-Vinay M.C., Rappaport R. Normal growth hormone (GH) response to GH-releasing hormone in children with thalassemia major before puberty: a possible age-related effect. J. Clin. Endocrinol. Metab. 1989, 69: 453–456.
Pintor C., Cella S.G., Manso P., Corda R., Dessi C., Locatelli V., Muller E.E. Impaired growth hormone (GH) response to GHreleasing hormone in thalassemia major. J. Clin. Endocrinol. Metab. 1986, 62: 263–267.
DeLuca G., Maggiolini M., Bria M., Caracciolo M., Giorno A., Salemo M., Marsico S., Lanzino M., Brancati C., Ando S. GH secretion in thalassemia patients with short stature. Horm. Res. 1995, 44: 158–163.
Low L.C., Postel-Vinay M.C., Kwan EX., Cheung P.T. Serum growth hormone (GH) binding protein, IGF-1 and IGFBP-3 in patients with beta-thalassaemia major and the effect of GH treatment. Clin. Endocrinol. (Oxf.) 1998, 48: 641–646.
Postel-Vinay M.C., Girot R., Leger J, Hocquette J.F., McKelvie P., Amar-Costesec A., Rappaport R. No evidence for a defect in growth hormone binding to liver membranes in thalassemia major. J. Clin. Endocrinol. Metab. 1989, 68: 94–98.
Shehadeh N., Hazani A., Rudolf M.C., Peleg I., Benderly A., Hochberg Z. Neurosecretory dysfunction of growth hormone secretion in thalassemia major. Acta Paediatr. Scand. 1990, 79: 790–795.
Katzos G., Papakostantinou-Athanasiadou E., Athanasiou-Metaxa M., Harsoulis F. Growth hormone treatment in short children with beta-thalassemia major. J. Pediatr. Endocrinol. Metab. 2000, 131: 163–170.
Arcasoy A., Ocal G., Kemahli S., Berberoglu M., Yildirmak Y., Canatan D., Akcurin S., Akar N., Uysal Z., Adiyaman P., Cetinkaya E. Recombinant human growth hormone treatment in children with thalassemia major. Pediatr. Int. 1999, 41: 655–661.
Bergeon C., Kovacs K. Pituitary siderosis: a histologic, immunocytologic, and ultrastructural study. Am. J. Pathol. 1978, 9: 295–309.
Berkovitch M., Bistritzer T., Milone S.D., PerIman K., Kucharczyk W., Koren G., Olivieri N.F. Iron deposition in the anterior pituitary in homozygous beta-thalassemia: MRI evaluation and correlation with gonadal function. J. Pediatr. Endocrinol. Metab. 2000, 13: 179–184.
Chatterjee R., Katz M., Cox T.F., Porter J.B. Prospective study of the hypothalamic-pituitary axis in thalassaemic patients who developed seconda amenorrhoea. Clin. Endocrinol. (Oxf.) 1993, 39: 287–296.
Bronspiegel-Weintrob N., Olivieri N.F., Tyler B., Andrews D.F., Freedman M.H., Holland F.J. Effect of age at the start of iron chelation therapy on gonadal function in betathalassemia major. N. Engl. J. Med. 1990, 323: 713–719.
Caruso-Nicoletti M., De Sanctis V., Capra M., Cardinale G., Cuccia L., Di Gregorio F., Filosa A., Galati M.C., Lauriola A., Malizia R., Mangiagli A., Massolo F., Mastrangelo C., Meo A., Messina M.F., Ponzi G., Raiola G., Ruggiero L., Tamborino G., Saviano A. Short stature and body proportion in thalassaemia. J. Pediatr. Endocrinol. Metab. 1998, 11: 811–816.
Papanastasiou D.A., Baikousis A., Sdougos G., Ziambaras T., Korovessis P. Correlative analysis of the sagittal profile of the spine in patients with betathalassemia and in healthy persons. J. Spinal Disord. 2000, 13: 113–117.
Korovessis P, Papanastasiou D., Tiniakou M, Beratis N.G. Incidence of scoliosis in beta-thalassemia and follow-up evaluation. Spine 1996, 21: 1798–1801.
de Sanctis V., Stea S., Savarino L., Granchi D., Visentin M., Sprocati M., Govoni R., Pizzoferrato A. Osteochondrodystrophic lesions in chelated thalassemic patients: an histological analysis. Calcif. Tissue Int. 2000, 67: 134–140.
Jensen C.E., Tuck S.M., Agnew J.E., Koneru S., Morris R.W., Yardumian A., Prescott E., Hoffbrand A.V., Wonke B. High prevalence of low bone mass in thalassaemia major. Br. J. Haematol. 1998, 103: 911–915.
Soliman A.T., EI Banna N., Abdel Fattah M., EI Zalabani M.M., Ansari B.M. Bone mineral density in prepubertal children with beta-thalassemia: correlation with growth and hormonal data. Metabolism 1998, 47: 541–548.
Filosa A., Di Maio S., Saviano A., Vocca S., Esposito G. Can adrenarche influence the degree of osteopenia in thalassemic children? J. Pediatr. Endocrinol. Metab. 1996, 9: 401–406.
Bagni B., Palazzi G., Bagni L., Caporali C., Froefflich W., Casolo A., Caputo C., Rossi S., Garetti E., Pansini F., Corazzari T., De Sanctis V., Massolo F. pQCT (quantitative peripheral tomography) and data evaluation of phosphocalcic metabolism in thalassaemic patients. J. Pediatr. Endocrinol. Metab. 1998, 11: 791–794.
Ruggiero L., De Sanctis V. Multicentre study on prevalence of fractures in transfusion-dependent thalassaemic patients. J. Pediatr. Endocrinol. Metab. 1998, 11: 773–778.
Vichinsky E.P. The morbidity of bone disease in thalassemia. Ann. Acad. Sci. 1998, 850: 344–348.
Voskaridou E., Kyrtsonis M.C., Terpos E., Skordili M., Theodoropoulos L., Bergele A., Diamanti E., Kalovidouris A., Loutradi A., Loukopoulos D. Bone resorption is increased in young adults with thalassaemia major. Br. J. Haematol. 2001, 112: 36–41.
Pappas S., Donohue S.M., Denver A.E., Mohamed-Ali V., Goubet S., Yudkin J.S. Glucose intolerance in thalassemia major is related to insulin resistance and hepatic dysfunction. Metabolism 1996, 45: 652–657.
Cavallo-Perin P., Pacini G., Cerutti F., Bessone A., Condo C., Sacchetti L., Piga A., Pagano G. Insulin resistance and hyperinsulinemia in homozygous beta-thalassemia. Metabolism 1995, 44: 281–286.
Dmochowski K., Finegood D.T., Francombe W., Tyler B., Zinman B. Factors determining glucose tolerance in patients with thalassemia major. J. Clin. Endocrinol. Metab. 1993, 77: 478–483.
Arrigo T., Crisaffilli G., Meo A., Sturiale M., Lombardo F., Miceli M., Cucinotta D., De Luca F. Glucose tolerance, insulin secretion and peripheral sensitivity in thalassaemia major. J. Pediatr. Endocrinol. Metab. 1998, 11: 863–866.
Theochari M., Loannidou D., Nounopoulos H., Bouloukos A., Papadogiannis M., Katsikari M., Karpathios T., Bartsocas C.S. Ultrasonography of the pancreas, as a function index, in children with beta-thalassemia. J. Pediatr. Endocrinol. Metab. 2000, 13: 303–306.
Midiri M., Lo Casto A., Sparacia G., D’Angelo P., Malizia R., Finazzo M., Montalto G., Solbiati L., Lagalla R., De Maria M. MR imaging of pancreatic changes in patients with transfusion-dependent beta-thalassemia major. Am. J. Roentgenol. 1999, 173: 187–192.
Alexandrides T., Georgopoulos N., Yarmenitis S., Vagenakis A.G. Increased sensitivity to the inhibitory effect of excess iodide on thyroid function in patients with beta-thalassemia major and iron overload and the subsequent development of hypothyroidism. Eur. J. Endocrinol. 2000, 143: 319–325.
Mariotti S., Loviselli A., Murenu S., Sau F., Valentino L., Mandas A., Vacquer S., Martino E., Balestrieri A., Lai M.E. High prevalence of thyroid dysfunction in adult patients with beta-thalassernia major submitted to amiodarone treatment. J. Endocrinol. Invest. 1999, 22: 55–63.
Klein I., Ojamaa K. Mechanisms of disease: thyroid hormone and the cardiovascular system. N. Engl. J. Med. 2001, 344: 551–558.
Even L., Bader T., Hochbeg Z. Diurnal variations of serum calcium, phosphorus and PTH in the diagnosis of hypoparathyroidism. Pediatr. Res. (abstract) p. 3–141, 2001.
Sklar C.A., Lew L.Q., Yoon O.D.J., David R. Adrenal function in thalassemia major following long-term treatment with multiple transfusions and chelation therapy. Evidence for dissociation of cortisol and adrenal androgen secretion. Am. J. Dis. Child. 1987, 141: 327–330.
Pasqualetti P., Colantonio D., Collacciani A., Casale R., Natali G. Circadian pattern of circulating plasma ACTH, cortisol, and aldosterone in patients with beta-thalassemia. Acta Endocrinol. (Copenh.) 1990, 123: 174–178.
Cohen A., van Lint M.T., Uderzo C., Rovelli A., Lavagetto A., Vitale V., Morchio A., Locasciulli A., Bacigalupo A., Romano C. Growth in patients after allogeneic bone marrow transplant for hematological diseases in childhood. Bone Marrow Transplant. 1995, 15: 343–348.
De Simone M., Olioso P., Di Bartolomeo P., Di Girolamo G., Farello G., Palumbo M., Papalinetti G., Bavaro P., Angrilli F., Torlontano G., et al. Growth and endocrine function following bone marrow transplantation for thalassemia. Bone Marrow Transplant. 1995, 15: 227–233.
De Simone M., Di Bartolomeo P., Olioso P., Di Girolamo G., Palumbo M., Farello G., Aconito P., Papalinetti G., Bavaro P., Criscione S. Growth after recombinant human growth hormone (rhGH) treatment in transplanted thalassemic patients. Bone Marrow Transplant. 1997, 20: 567–573.
De Sanctis V., Galimberti M., Lucarelli G., Angelucci E., Ughi M., Baronciani D., Polchi P., Giardini C., Bagni B., Vullo C. Pubertal development in thalassaemic patients after allogenic bone marrow transplantation. Eur. J. Pediatr. 1993, 152: 993–997.
De Sanctis V., Galimberti M., Lucarelli G., Angelucci E., Ughi M., Baronciani D., Polchi P., Giardini C., Vullo C., Bagni B. Gonadal function in long term survivors with B thalassemia major following bone marrow transplantation. Bone Marrow Transplant. 1993, 12: 104.
Galimberti M., De Sanctis V., Lucarelli G., Polchi P., Angelucci E., Baronciani D., Giardini C., Erer B., Gaziev J., Balducci R., et al. Pancreatic beta-cell function before and after bone marrow transplantation for thalassemia. Bone Marrow Transplant. 1993, 12: 102–103.
Cao A., Galanello R., Rosatelli M.C. Prenatal diagnosis and screening of the haemoglobinopathies. Baillieres Clin. Haematol. 1998, 11: 215–238.
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Tiosano, D., Hochberg, Z. Endocrine complications of thalassemia. J Endocrinol Invest 24, 716–723 (2001). https://doi.org/10.1007/BF03343916
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DOI: https://doi.org/10.1007/BF03343916