Unità Operativa Complessa di Pediatria, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
J Endocrinol Invest. 2010 Jan;33(1):61-8. doi: 10.1007/BF03346551.
Thalassemia major is an inherited hemoglobin disorder characterized by chronic anemia and iron overload due to transfusion therapy and gastrointestinal absorption. Iron overload causes most of the associated mortality and morbidity and frequently involves the endocrine glands.
To review the most pertinent literature on the topic.
One hundred and twenty-three papers were evaluated.
Disproportionate short stature is frequent and becomes more evident at puberty because of the lack of growth spurt. Later on, partial height recovery may occur. Long-term treatment with recombinant human GH seems ineffective to improve final height. Pubertal development is characterized by a clinical spectrum ranging from hypogonadism to a simple delay in starting and developing of puberty. Hormonal replacement is mandatory in cases of absent or arrested puberty. Pancreatic beta-cells function may be impaired during adolescence or later on. Its impairment ranges from hyperinsulinemia, secondary to insulin resistance, with normal glucose tolerance to beta-cells failure with insulin-dependent diabetes mellitus. Primary hypothyroidism may affect thalassemic patients from the second decade of life. The thyroid dysfunction may be reversible (if an intensive chelation therapy regimen is started in the precocious phase), stationary, or slowly progressive. Central hypothyroidism is less common and autoimmune thyroiditis absent.
Despite the improvement of the treatment, the involvement of the endocrine system still burdens the life of these patients. Further therapeutic improvement would reasonably reduce morbidity and, hopefully, mortality of thalassemic patients and make the endocrine disorders easier to treat.
重型地中海贫血是一种遗传性血红蛋白疾病，其特征为慢性贫血和铁过载，这是由于输血治疗和胃肠道吸收所致。铁过载导致了大部分相关的死亡和发病，并且经常涉及内分泌腺体。
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不成比例的身材矮小很常见，并且由于缺乏生长突增，在青春期变得更加明显。之后，可能会出现部分身高恢复。长期使用重组人生长激素治疗似乎对改善最终身高无效。青春期发育的特点是临床谱从性腺功能减退症到青春期开始和发育的简单延迟。在青春期或以后，β细胞功能可能受损。其损伤范围从胰岛素抵抗导致的高胰岛素血症，伴正常糖耐量，到β细胞衰竭伴胰岛素依赖型糖尿病。原发性甲状腺功能减退症可能会影响到第二十年纪的地中海贫血患者。甲状腺功能障碍可能是可逆的（如果在早期阶段开始强化螯合治疗方案），静止的或缓慢进展的。中枢性甲状腺功能减退症较少见，自身免疫性甲状腺炎不存在。
尽管治疗有所改善，但内分泌系统的受累仍然给这些患者的生活带来负担。进一步的治疗改善将合理地降低地中海贫血患者的发病率，并有希望降低死亡率，并使内分泌疾病更容易治疗。
