Endocrinopathies in thalassemia - a review

The Korean Journal of Clinical Laboratory Science, 2017

Thalassemia major is a genetic disorder with a defective synthesis of either the alpha or the beta chain of hemoglobin A. Blood transfusion is crucial for the survival in these patients. Unfortunately, endocrine dysfunction is a very common complication in these patients and is principally due to excessive iron overload as a result of frequent blood transfusions. Although regular blood transfusion may increase life expectancy, disturbances in growth and pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes, and disorderly bone growth are common side effects. We hereby present a case of a 23-year-old, unmarried woman with beta thalassemia major presenting with primary amenorrhea, poor development of secondary sexual character, and short stature. Thorough history, clinical examination, and laboratory investigation, including dynamic function test (insulin tolerance test) were conducted. These tests confirmed that she had multiple endocrinopathies, including hypogonadotropic hypogonadism, growth hormone deficiency, and subclinical adrenal insufficiency, which were caused by iron overload. She required hormone replacement therapy. Early recognition of possible deficiencies in hypothalamo-pituitary-end organ hormones caused by iron overload in thalassemia patients that undergo frequent blood transfusion procedures is essential. Appropriate treatments, including transfusion regimen and chelation therapy, as well as specific treatment of each complication are the crucial for the successful management and improvement of quality of life these patients.

Gazi Medical Journal, 2014

Thalassemia refers to a group of genetic disorders associated with defective synthesis of alpha or beta subunits of globin chain of HbA. Patients with thalassemia major are transfusion dependent for life and they suffer from numerous problems associated with chronic anemia; extramedullary hematopoiesis and an iron overload. Several endocrine organs are affected by the iron overload. Hypogonadism is the most common endocrine complication in thalassemia. Diabetes, osteoporosis, growth hormone deficiency are other endocrine disorders seen among thalassemic patients. This review begins with a case and mainly focusses on diagnosis and treatment of endocrinological problems in adult thalassemia major patients.

Journal of Endocrinological Investigation, 2019

Purpose Transfusion-dependent beta-thalassemia (TDT) patients suffer from various endocrinopathies. The main contributing factor associated with these complications is iron overload, secondary to frequent blood transfusions. To improve patients' quality of life, we evaluated the prevalence of endocrine disorders while considering the associated factors for further assessment. Methods Seven hundred thirteen transfusion-dependent thalassemia patients with age range 10-62 years were enrolled in this study. Serum calcium, phosphorous, fast blood sugar, ferritin, 25-OH vitamin D, free thyroxin, thyroid-stimulating hormone and parathyroid hormone were assessed. Bone mineral density was measured by dual-energy X-ray absorptiometry. Results In total, 86.8% of the TDT patients suffered from at least one endocrinopathy. The prevalence of endocrinopathies in descending order of frequency was low bone mass (72.6%), hypogonadism (44.5%), diabetes mellitus (15.9%), hypoparathyroidism (13.2%), and hypothyroidism (10.7%). Age, body mass index and splenectomy were significantly associated with most of the endocrine disorders. Conclusion Endocrine complications are frequently observed in TDT patients. Splenectomy is a major risk factor and should be generally avoided unless it is highly indicated. Periodic surveillance of endocrine function and proper management of iron overload are advised.

PAFMJ

Objective: To determine the common endocrine complications found in children having thalassemia major. Study Design: Cross-sectional study. Place and Duration of Study: Department of Pediatric Medicine, Combined Military Hospital Multan, from May to Nov 2019. Methodology: A total of 160 Children with thalassemia were taken in this study. Once registered, venous blood sample was taken and sent to the laboratory for endocrine profile. SPSS-21 was applied for analysis of collected data. Results: Out of 160 study cases, 100 (62.5%) were boys while 60 (37.5%) were female patients. Mean age of our study cases was 8.58 ± 1.98 years. Mean duration of disease was 5.28 ± 3.29 years. Parental consanguinity was positive in 122 (76.3%) and only 47 (29.4%) were taking chelation therapy. Mean HbA1C level was 6.23 ± 1.18% mg/dl and diabetes was noted in 41 (25.6%) of our study cases. Mean FT4 was 0.98 ± 0.13 ng/dl and hypothyroidism was noted in 24 (15%) of our study cases. Conclusion: Diabetes and...

Indian Journal of Endocrinology and Metabolism, 2013

international journal of endocrinology and metabolism, 2008

halassemia major is a genetic disorder and blood transfusion is critical for survival in these patients. Over the course of the past three decades, hyper transfusion therapy in these patients has shown significant increase in life expectancy and quality of life. Unfortunately this type of therapy also increased the frequency of complications due to iron overload. The aim of this study was to evaluate the prevalence of endocrine disturbances in patients, aged over 10 years, with thalassemia major. Materials and Methods: Fifty six patients, aged over 10 years, with thalassemia major were enrolled. Physicians collected demographic data and history of therapies as well as menstrual histories in females. Patients were examined to determine their pubertal status and SDS of height for evaluation of short stature. For evaluation of glucose tolerance, fasting blood glucose and oral glucose tolerance tests were performed. Serum levels were measured for calcium, phosphorous, thyroid stimulating hormone, free thyroxin, luteinizing hormone, follicular stimulating hormone, and estradiol and testosterone in girls and boys respectively. Results: Fifty-six patients with thalassemia major, aged between 10-27 years, were evaluated. In this study prevalences of diabetes mellitus, impaired fasting glucose and impaired glucose tolerance test were 8.9%, 28.6% and 7.1% respectively. Short stature (SDS 2-2) was seen in 70% of boys and in 73% of girls. Hypocalcaemia and primary overt hypothyroidism were present in 41% and 16% respectively; 14.3% of our patients had no endocrine abnormalities. Conclusion: Despite recent therapy with Desferal in the management of beta-thalassemia major, the risk of secondary endocrine dysfunction remains high. Hypogonadism is one of the most frequent endocrine complications. Endocrine evaluation in patients with thalassemia major must be carried out regularly especially in those patients over the age of 10 years, in Tabriz.

Internal Medicine Journal, 2010

Background: Thalassaemia major is a common and serious medical problem worldwide that is associated with a range of complications, including effects on multiple endocrine pathways. Minimizing or preventing comorbidities is important for these individuals who need life-long multidisciplinary care and treatment. However, there are limited overviews of the endocrine complications associated with this illness, nor any consensus regarding management guidelines.

Journal of Pediatric Endocrinology and Metabolism, 2014

Children with thalassemia are living longer due to better care. Physicians dealing with this group of patients now have to contend with new challenges resulting from iron overload. Endocrine complications represent the most common morbidities encountered. To provide a better quality of life, these complications have to be addressed in a consistent way. For this purpose, we have compiled a set of recommendations to help physicians provide the best care possible to these patients.

Annals of Saudi Medicine, 2008

T reatment with transfusion and chelating therap p py has considerably prolonged survival in thalp p assemic patients. 1 However, as a result of hyp p pertransfusion therapy and increased longevity, iron tisp p sue toxicity has become more common, and contributes significantly to morbidity in these patients. In recent years, several authors have reported a high incidence of endocrine abnormalities in children, adolescents and young adults suffering from thalassemia major. 3 Short stature and hypogonadism are extremely frequent in patients with thalassemia. In some reports, 49% of thalassemic patients had a height standard deviation score less than -2 and 83% of thalassemic patients had a height standard deviation score less than -1. 4 Borgnap

Internal Medicine Journal, 2010

Background: Thalassaemia major is a common and serious medical problem worldwide that is associated with a range of complications, including effects on multiple endocrine pathways. Minimizing or preventing comorbidities is important for these individuals who need life-long multidisciplinary care and treatment. However, there are limited overviews of the endocrine complications associated with this illness, nor any consensus regarding management guidelines.Method: A retrospective cohort analysis of β-thalassaemia patients attending an ambulatory transfusion clinic at Royal Prince Alfred Hospital was conducted from June 2008.Results: All of our subjects (n = 29) had at least one endocrinopathy present with 16 patients (55%) having three or more (≥3) endocrinopathies. Hypogonadism was the most prevalent followed by osteoporosis and growth failure (less than 3rd centile) with a frequency of 16/29 (55%), 14/29 (48%) and 10/29 (35%) patients respectively. Those with more endocrinopathies (≥3) had a longer duration of transfusion therapy when compared with those with fewer endocrinopathies.Conclusion: A summary of our clinical guidelines, which have been used to monitor and manage these complications, is presented along with a discussion on the results and pathophysiology of the associated endocrinopathies.