Severe Liver Iron Concentrations (Lic) in 24 Patients With Β-Thalassemia Major: Correlations With Serum Ferritin, Liver Enzymes and Endocrine Complications

Abstract

IntroductionChronic blood transfusion is the mainstay of care for individuals with β-thalassemia major (BTM). However, it causes iron-overload that requires monitoring and management by long-term iron chelation therapy to prevent endocrinopathies and cardiomyopathies, which can be fatal. Hepatic R2 MRI method (FerriScan®) has been validated as the gold standard for evaluation and monitoring liver iron concentration (LIC) that reflects the total body iron-overload. Although adequate oral iron chelation therapy (OIC) is promising for the treatment of transfusional iron-overload, some patients are less compliant with it, and others suffer from long-term effects of iron overload.ObjectiveThe aim of our study was to evaluate the prevalence of endocrinopathies and liver dysfunction, in relation to LIC and serum ferritin level, in a selected group of adolescents and young adult BTM patients with severe hepatic iron overload (LIC from 15 to 43 mg Fe/g dry weight).Patients and MethodsTwenty-four selected BTM patients with severe LIC, due to transfusion-related iron-overload, followed at the Haematology Section, National Centre for Cancer Care and Research, Hamad Medical Corporation of Doha (Qatar), from April 2015 to July 2017, were retrospectively evaluated. The prevalence of short stature, hypogonadism, hypothyroidism, hypoparathyroidism, impaired fasting glucose (IFG), diabetes, and adrenal insufficiency was defined and assessed according to the International Network of Clinicians for Endocrinopathies in Thalassemia (ICET) and American Diabetes Association criteria.ResultsPatients’ most common transfusion frequency was every three weeks (70.8%). At the time of LIC measurements, their median age was 21.5 years with a mean age of 21.7 ± 8.0 years. Mean LIC was 32.05 ± 10.53 mg Fe/g dry weight (range: 15 to 43 mg Fe/g dry weight), and mean serum ferritin level was 4,488.6 ± 2,779 μg/L. LIC was correlated significantly with serum ferritin levels (r = 0.512; p = 0.011). The overall prevalence of short stature was 26.1% (6/23), IFG was 16.7% (4/24), sub-clinical hypothyroidism was 14.3% (3/21), hypogonadotropic hypogonadism was 14.3% (2/14), diabetes mellitus was 12.5% (3/24), and biochemical adrenal insufficiency was 6.7% (1/15). The prevalence of hepatitis C positivity was 20.8% (5/24). No case of clinical hypothyroidism, adrenal insufficiency or hypoparathyroidism was detected in this cohort of patients. The prevalence of IFG impaired fasting glucose was significantly higher in BTM patients with very high LIC (>30 mg Fe/g dry liver) versus those with lower LIC (p = 0.044). The prevalence of endocrinopathies was not significantly different between the two groups of patients with LIC above and below 15 mg Fe/g dry weight.ConclusionsA significant number of BTM patients, with high LIC and endocrine disorders, still exist despite the recent developments of new oral iron chelating agents. Therefore, physicians’ strategies shall optimize early identification of those patients to optimise their chelation therapy and to avoid iron...

FINAL HEIGHT AND ENDORINE COMPLICATIONS IN PATIENTS WITH Β-Thalasssemia INTERMEDIA: OUR EXPERIENCE IN NON-TRANSFUSED VERSUS INFREQUENTLY TRANSFUSED PATIENTS AND CORRELATIONS WITH LIVER IRON CONTENT

“…The manufacturer’s normal reference range values for SF were 30–350 ng/L, in males, and 15–150 ng/mL in females. Iron status was classified as mild (serum ferritin < 1,000 ng/mL), moderate (serum ferritin >1,000 ng/mL and < 2,000 ng/mL) or severe (serum ferritin >2,000 ng/mL) 19…”

“…Liver iron content (LIC) was measured by FerriScan ® and values were expressed in mg Fe/g weight.4 Four classes of LIC have been reported in thalassemic patients: Class 1 = normal LIC < 3 mg Fe/g dry liver, Class 2 = mild overload LIC 3–7 mg Fe/g dry weight, Class 3 = moderate LIC overload 7–15 mg Fe/g dry weight, and Class 4 = severe LIC overload ≥15 mg Fe/g dry weight 19–21…”

Thalassemia and Priapism: A Literature Review of a Rare Association

“…Clinical manifestations of thalassemia are highly variable, ranging from asymptomatic in individuals with mild/silent mutations to mild hypochromic anemia, while other individuals may have life-long transfusion-dependent moderate to severe anemia and multiorgan involvement [2]. Individuals with thalassemia may experience complications, including but not limited to liver fibrosis and cirrhosis, cardiac failure, arrhythmias, and endocrinopathies [3]. Endocrine complications of thalassemia major commonly involve growth hormone and insulin-like growth factor (IGF-1) axis resulting in IGF-1 deficiency associated with growth hormone deficiency [4].…”

COVID-19 infection In Beta Thalassemia Major: Case series

“…Beta thalassemia major (BTM) patients are most likely to be diagnosed earlier and become blood transfusion dependent for their whole life whereas beta thalassemia intermedia (BTI) patients have milder disease course, thus diagnosed later life. Depending on this clinical course Thalassemia was categorized into transfusion dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT) [4,5] COVID-19 pandemic was considered to cause a real challenge for haemoglobinopathies patients, their surroundings including families and medical staff as per the statement from Thalassemia international Federation (TIF) which published on the 13th of July 2020 considering patients with hemoglobinopathies at greater risk to get the infection. However, they also emphasized the lack of evidence regarding the clinical course of COVID-19 infections in this category of patients [6] .…”