Endocrinopathies and its relationship with Thalassemia

Ranjit S Ambad (1) , Roshan Kumar Jha (2) , Saurabh Hadke (3) , Sonal Muley (4)
(1) Department of Biochemistry, Datta Meghe Medical College, Shalinitai Meghe Hospital & Research Centre, Hingana, Nagpur, Maharashtra-441110, India, India ,
(2) Department of Biochemistry, Jawaharlal Nehru Medical College, AVBRH (Datta Meghe Institute of Medical Sciences) Sawangi, Wardha-442001, India, India ,
(3) Department of Medicine, Datta Meghe Medical College, Shalinitai Meghe Hospital & Research Centre, Nagpur-441110, Maharashtra, India, India ,
(4) Department of Ophthalmology, Datta Meghe Medical College, Shalinitai Meghe Hospital & Research Centre, Nagpur-441110, Maharashtra, India, India


Thalassemia is a common genetic blood disorder that places a burden on patients and the healthcare system, particularly in developing countries. Thalassemia is an inherited hemoglobinopathy that is transmitted to an individual as a result of a gene mutation that creates the alpha or beta-globin chains. Unless the genes are defective for beta chains, it may result in betathalassemia. If both beta genes are defective, the person has significant thalassemia and extreme anemia. Thalassemia is associated with several disorders of the endocrine that include pituitary, thyroid, pancreas, gonads, parathyroid and bone. This cross-sectional study was carried out on 100 Thalassemia patients, and 100 healthy controls and the levels of Minerals, Hormones, Diabetic Profile and Vitamin D was assessed in both the groups. Vitamin D deficiency was the commonest endocrine complications, followed by LH/FSH deficiency, hypothyroidism (32%), diabetes mellitus (6.7%) hyperparathyroidism and adrenal insufficiency. Seven out of thirty-two patients with hypothyroidism presented with subclinical hypothyroidism. In our study total, 41% of patients had Vitamin D deficiency, 13 % had vitamin D insufficiency, and 46% had sufficient levels. Diabetes Mellitus with high fasting levels was seen in 16% of patients. In our study, 10% of patients had no Endocrine Disorder. The present study suggests that early screening programs for iron overload should be implemented to prevent endocrinopathies in children and adults and supplemented with prophylactic vitamin D.

Full text article

Generated from XML file


Abdulzahra, M. S., et al. 2011. Study of the effect of iron overload on the function of endocrine glands in male thalassemia patients. Asian Journal of Transfusion Science, 5(2):127–131.

Al-Elq, A. H., Hh, A.-S. 2004. Endocrinopathies in patients with thalassemias. Saudi medical journal, 25(10):1347–1351.

Benz, E. J. 2005. Hemoglobinopathies disorder chapter 94. Harrison’s Principles of internal medicine. Mc Grow Hill: USA. Tata McGraw - Hill Education.

De Sanctis, V. 2002. Growth and Puberty and Its Management in Thalassaemia. Hormone Research in Paediatrics, 58(1):72–79.

De Sanctis, V., Eleftheriou, A., Malaventura, C. 2004. Prevalence of endocrine complications and short stature in patients with thalassaemia major: a multicenter study by the Thalassaemia International Federation (TIF). Pediatric endocrinology reviews: PER, 2:249–255.

de Silva, S., et al. 2000. Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. The Lancet, 355(9206):786–791.

Espallargues, M., et al. 2001. Identifying Bone-Mass-Related Risk Factors for Fracture to Guide Bone Densitometry Measurements: A Systematic Review of the Literature. Osteoporosis International, 12(10):811–822.

Flynn, D. M., et al. 1976. Hormonal changes in thalassaemia major. Archives of Disease in Childhood, 51(11):828–836.

Fung, E. B., et al. 2006. Increased prevalence of iron-overload associated endocrinopathy in thalassaemia versus sickle-cell disease. British Journal of Haematology, 135(4):574–582.

Galanello, R., Origa, R. 2010. Beta-thalassemia. Orphanet Journal of Rare Diseases, 5(1):1–11.

Gamberini, M. R., et al. 2008. Hypogonadism, diabetes mellitus, hypothyroidism, hypoparathyroidism: incidence and prevalence related to iron overload and chelation therapy in patients with thalassaemia major followed from 1980 to 2007 in the Ferrara Centre. Pediatric endocrinology reviews: PER, 6:158–169.

Gulati, R., et al. 2000. Early Onset of Endocrine Abnormalities in ß-Thalassemia Major in a Developing Country. Journal of Pediatric Endocrinology and Metabolism, 13(6):651–656.

Kataki, R. P., Bharati, S. 2019. Relationship between serum ferritin and endocrinopathies in thalassemic children: A hospital-based study. Indian Journal of Child Health, 6(5):201–204.

Kuo, B., et al. 1968. Endocrine Function in Thalassemia Major. The Journal of Clinical Endocrinology & Metabolism, 28(6):805–808.

Kyriakou, A., Skordis, N. 2009. Thalassaemia and aberrations of growth and puberty. Mediterranean journal of hematology and infectious diseases, 1(1):e2009003.

Lee, P. 1925. Series of cases of splenomegaly in children with anemia and peculiar bone change. Trans. Am. Pediatr. Soc, 37:29–30.

Mahmoodi, M., et al. 2011. Diffuse intracerebral calcification in a beta-thalassaemia major patient with hypoparathyroidism: a case report. Pediatric endocrinology reviews : PER, 8(2):331–333.

Mandal, P., et al. 2014. Present scenario of hemoglobinopathies in West Bengal, India: An analysis of a large population. International Journal of Medicine and Public Health, 4(4):496–499.

Masala, A., et al. 1984. Endocrine Functioning in Multitransfused Prepubertal Patients with Homozygous β-Thalassemia. The Journal of Clinical Endocrinology & Metabolism, 58(4):667–670.

Mohammadi, B., et al. 2007. Modeling the effect of levothyroxine therapy on bone mass density in postmenopausal women: a different approach leads to new inference. Theoretical Biology and Medical Modelling, 4(1):1–23.

Najafipour, F., et al. 2008. A cross-sectional study of metabolic and endocrine complications in beta-thalassemia major. Annals of Saudi Medicine, 28(5):361–366.

Rachmilewitz, E. A., Giardina, P. J. 2011. How I treat thalassemia. Blood, 118(13):3479–3488.

Shamshirsaz, A. A., et al. 2003. Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran. BMC Endocrine Disorders, 3(1):1–6.

Thein, S. L. 2002. β-Thalassaemia prototype of a single gene disorder with multiple phenotypes. International Journal of Hematology, 76(S2):96–104.

Tiosano, D., Hochberg, Z. 2001. Endocrine complications of thalassemia. Journal of Endocrinological Investigation, 24(9):716–723.

Weatherall, D. J., Clegg, J. B. 2001. Inherited haemoglobin disorders: an increasing global health problem. Bulletin of the World Health Organization, 79:704–712.

Weiss, M., et al. 2019. Clinical and economic burden of regularly transfused adult patients with β-thalassemia in the United States: A retrospective cohort study using payer claims. American Journal of Hematology, 94(5):129–132.


Ranjit S Ambad
Roshan Kumar Jha
Saurabh Hadke
saurabhhadke2@gmail.com (Primary Contact)
Sonal Muley
Ranjit S Ambad, Roshan Kumar Jha, Saurabh Hadke, & Sonal Muley. (2021). Endocrinopathies and its relationship with Thalassemia. International Journal of Research in Pharmaceutical Sciences, 12(1), 304–309. Retrieved from https://ijrps.com/home/article/view/233

Article Details

No Related Submission Found