scholarly journals Association Between Serum Ferritin Level and Gene Mutations in Patients with Thalassemia Major and Intermediate

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Mohsen Anafje ◽  
Kaveh Jaseb ◽  
Homayon Yousefi
Keyword(s):  
Blood Transfusion ◽  
Disease Severity ◽  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Beta Thalassemia ◽  
Significant Difference ◽  
The Relationship

Background: Beta-thalassemia is one of the most important health problems worldwide. Identifying common mutations as well as the relationship between serum ferritin level and gene mutations in patients with intermediate and major thalassemia can be helpful in preventive programs. Objectives: The purpose of this study was to assess the association between serum ferritin level and gene mutations in patients with intermediate and major thalassemia. Methods: This descriptive cross-sectional study was done using patients' medical records available in the hospital archives, and data of 132 patients with mutated genes referred to Ahvaz Shafa hospital from 2012-2017 were evaluated. In addition to determining the frequency of different gene mutations, the relationship between different gene mutations and serum ferritin levels, as well as hemoglobin levels before the first blood transfusion and the age of the patients (month) before the first blood transfusion, were investigated. Results: There was no significant relationship between mutated genes and serum ferritin levels (P = 0.2). There was a significant difference between the types of gene mutations and the levels of hemoglobin before the first blood transfusion (P = 0.01). There was no significant difference between the types of gene mutations and the age of the patients before the first blood transfusion (P = 0.4). Conclusions: There was no association between the types of mutations and serum ferritin levels as an indicator of disease severity. Patients with hemoglobin levels of 6 to 7 mg/dl were found with a higher likelihood of receiving a blood transfusion, with a higher percentage having the IVSII-I gene mutation, but given that many mutations were random and we just had one or two patients with these mutations, it cannot be used as an indicator for disease severity. We need to conduct studies with a larger sample size to be used as an indicator for disease severity. Since the influence of the other accompanying genes and polymorphism plays an important role in the clinical manifestations of genetic diseases, it can be the reason for some negative results.

scholarly journals PREVALENCE OF HYPOTHYROIDISM, DELAYED PUBERTY AND DIABETES MELLITUS IN PATIENTS OF Β-THALASSEMIA MAJOR

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Naresh Manne ◽  
Bharat Kumar Gupta ◽  
Sandeep Kumar Yadav ◽  
Saurabh Singhal ◽  
Archana Dubey
Keyword(s):  
Diabetes Mellitus ◽  
Blood Transfusion ◽  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Thalassemia Major ◽  
Delayed Puberty ◽  
Beta Thalassemia ◽  
Endocrine Disorders ◽  
Beta Thalassemia Major

Background: Beta-Thalassemia is a genetic disorder which is associated with a lot of complications. Frequent blood transfusions result in increased iron deposition in various tissues leading to dysfunction of many vital organs. Endocrine disorders constitute a major part of such complications increasing the morbidity of thalassemia manifold in the affected patients. Methods:  This is a descriptive cross sectional study carried out in 100 diagnosed patients of beta- thalassemia major who had visited the OPD/IPD of Subharti Medical College & affiliated Hospitals, Meerut for routine blood transfusion or for any other complication. Patients were clinically examined and investigated for presence of one or more endocrine disorders on their routine appointments. Results: Endocrine disorders were detected in a total of 82 patients. Diabetes mellitus was detected in 12% patients, hypothyroidism in 36% patients and delayed puberty was found in 72% patients. Mean serum ferritin level was found to be 5831.0±2860.5 ng/ml in beta-thalassemia Major patients, while it was in normal range in control subjects. Conclusion: Research concluded with finding of Delayed puberty (72%), Hypothyroidism (36%) and diabetes mellitus as (12%) in beta thalassemia patients who were on regular blood transfusion therapy.  Iron overload as serum ferritin level was found to be highly raised in all study case. On the basis of our study we recommend that early detection and management protocols for these endocrinopathies may improve the life prospects of beta-thalassemia Major patients. Keywords: Endocrine disorders, Hypothyroidism, Delayed puberty, Diabetes Mellitus Serum ferritin, Thalassemia Major.

Association of Body mass index and serum ferritin level in pediatrics with Beta-thalassemia major disease

2022 ◽  
Author(s):  
Saeed Yousefian ◽  
Ghassem Miri Aliabad ◽  
Rana Saleh ◽  
Majid Khedmati
Keyword(s):  
Body Mass Index ◽  
Blood Transfusion ◽  
Body Mass ◽  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Major Disease ◽  
Beta Thalassemia Major

Background: Beta-thalassemia major is a type of inherited blood disease that results in variable outcomes such as severe anemia due to haemoglobin chains. Recurrent and lifelong blood transfusions as a treatment in beta-thalassemia major disease lead to iron deposition in various organs and cause the failure of multiple organs. Failure of affected organs leads to Body mass index (BMI) abnormality. This study aimed to evaluate the association between BMI and serum ferritin level as a marker for iron overload. Materials and Methods: A cross-sectional study designed and conducted with total number of 740 paediatrics, with mean age about 14.2±8.7 years old and with beta-thalassemia major requiring recurrent blood transfusion. Patient information, including demographics, serum ferritin level and percentage of BMI, was recorded and analysed by SPSS 25.0 and the statistical significant level, considered as 0.05.    Results: A total number of 740 paediatrics with beta-thalassemia major disease (mean age about 14.2±8.7 years) were included to study to examine the association between serum ferritin level and their BMI.  The total mean serum level of ferritin calculated about 3326 ± 3859 Nanogram/mililitter (ng/ml). Totally, 447 (60.4%) case of them had BMI percentile less than 5%, 274 (37.02%), 16 (2.16%) and 3 (0.4%) had BMI percentile 5%-85%, 85%-95% and more than 95%. There was no relation between gender and serum ferritin levels. The relationship between age and BMI has been positive (P=0.002). Finally, it resulted that there was a negative relationship between the BMI percentile and mean serum ferritin levels in paediatrics with beta-thalassemia major (P=0.031). Conclusion: Frequent Blood transfusion is associated with elevated serum ferritin level in paediatrics with beta-thalassemia major disease and experiencing lower percentiles of BMI in these patients.

scholarly journals Red meat and egg intake and serum ferritin concentrations in Colombian children: results of a population survey, ENSIN-2015

2020 ◽  
Vol 9 ◽  
Author(s):  
Oscar F. Herran ◽  
Jhael N. Bermúdez ◽  
María Del Pilar Zea
Keyword(s):  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Red Meat ◽  
Cross Sectional ◽  
Egg Consumption ◽  
Dietary Consumption ◽  
The Mean ◽  
The Relationship ◽  
Meat And Eggs

Abstract The present study aimed to (a) establish the frequency of consumption of red meat and eggs; (b) determine serum ferritin levels (μg/l); and (c) establish the relationship between serum ferritin and the consumption of red meat and eggs. In Colombia during 2014–2018, an analytical study was conducted in 13 243 Colombian children between the ages of 5 and 17 years, based on cross-sectional data compiled by ENSIN-2015 (Encuesta Nacional de la Situación Nutricional en Colombia-2015) on serum ferritin levels and dietary consumption based on a questionnaire of the frequency of consumption. Using simple and multiple linear regression, with the serum ferritin level as the dependent variable and the frequency of consumption as the main explanatory variable, the crude and adjusted partial regression coefficients (β) between serum ferritin levels and consumption were calculated. The frequency of habitual consumption of red meat was 0⋅49 (95 % CI 0⋅47, 0⋅51) times/d. The frequency of habitual egg consumption was 0⋅76 (95 % CI 0⋅74, 0⋅78) times per d. The mean serum ferritin level in men was 41⋅9 (95 % CI 40⋅6, 43⋅1) μg/l and in women, 35⋅7 (95 % CI 34⋅3, 37⋅7) μg/l (P < 0⋅0001). The adjusted β between the consumption of red meat and eggs and serum ferritin levels were β = 3⋅0 (95 % CI 1⋅2, 4⋅7) and β = 2⋅5 (95 % CI 1⋅0, 3⋅9) for red meat and eggs, respectively. In conclusion, red meat and eggs are determinants of serum ferritin levels in Colombia and, therefore, could be considered public policy options to reduce anaemia and Fe deficiency.

scholarly journals Thyroid Status in Patients with Low Serum Ferritin Level

2013 ◽  
Vol 5 (1) ◽  
pp. 5-11
Author(s):  
S Akhter ◽  
ZU Nahar ◽  
S Parvin ◽  
A Alam ◽  
S Sharmin ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Iron Deficiency ◽  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Ferritin Level ◽  
Thyroid Peroxidase ◽  
Hormone Synthesis ◽  
Tissue Iron ◽  
Iron Deficient ◽  
Significant Difference

Iron deficiency is the most important but preventable nutritional problem in Bangladesh. Thyroid peroxidase, an iron containing enzyme, is essential for initial two steps of thyroid hormone synthesis which is a component of tissue iron. Tissue iron diminishes early in the course of iron deficiency. So thyroid hormone level may be altered in iron deficient patients. This case-control study was carried out in the Department of Biochemistry, Bangabandhu Sheikh Mujib Medical University (BSMMU) from July 2006 to June 2007. This study was done to find out the changes of thyroid hormonal activity in iron deficiency.In this study 72 subjects were selected from the out-patient department of the hospital. Patients with low serum ferritin level <12 mgm/L were selected as cases (n=36) and healthy persons with normal serum ferritin level were taken as controls. Serum ferritin, thyroid stimulating hormone (TSH), free thyroxine (FT4) and free triiodothyronine (FT3) were measured in all study subjects. Values were expressed as mean ± SD. Unpaired 't' test and Pearson's correlation test were performed to see the level of significance and p value <0.05 was taken as significant. Serum ferritin level in cases and controls were 6.78±4.05 mgm/L and 79.04±28.08 mgm/L respectively which showed significant difference (P<0.0001).Serum TSH concentration in cases and controls were 3.32±1.54 mIU/L and 1.89±0.86 mIU/L respectively. Serum FT4 concentration in cases and controls were 11.66±1.77 pmol/L and 13/10±1.36 pmol/L respectively and that of FT3 were 3.00±0.68 and 3.31±0.61 pmol/L respectively. All showed significant difference between groups.Serum ferritin and Serum TSH showed significant negative correlation in controls whereas in cases they showed negative correlation which was not statistically significant.Both serum FT4 and FT3 revealed positive correlation with serum ferritin but that too was not significant statistically.Though the study failed to show any significant positive correlation between serum ferritin and thyroid hormones, lower level of thyroid status in iron deficient patients suggest that it could be a reflection of disturbed activities of iron dependent enzymes such as thyroid peroxidase that impairs thyroid hormone synthesis. However, a large scale study is recommeded to establish the fact.This study showed that there was significant difference in thyroid hormonal status between iron deficient patients and normal healthy persons. Therefore it can be concluded that iron deficiency may impair normal thyroid hormone status. DOI: http://dx.doi.org/10.3329/bjmb.v5i1.13424 Bangladesh J Med Biochem 2012; 5(1): 5-11

scholarly journals Correlation between serum ferritin level, cardiac and hepatic T2-star MRI in patients with β-thalassemia major in Al-Diwaniya thalassemia center

2018 ◽  
Vol 9 (SPL1) ◽  
Author(s):  
Alaa Mutter Jabur Al-Shibany ◽  
AalanHadi AL-Zamili
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Serum Ferritin Level ◽  
Chelation Therapy ◽  
Ferritin Level ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Iron Level ◽  
The Mean ◽  
T2 Mri

Patients with transfusion dependent thalassemia major is often associated with iron overload. Proper use of iron chelators to treat iron overload requires an accurate measurement of iron levels. Magnetic resonance T2-star (T2* MRI) is the preferred method to measure iron level in the liver andthe heart. The goal of our study was to see if there is an association exists between serum ferritin level and T2* MRI results in patients with beta thalassemia major.This study was done in Al-Diwaniya Thalassemia center,Maternity and children teaching hospital,Iraq. During the period from 1st of January to 31st of October. Fifty eight patients with a diagnosis of beta thalassemia major were enrolled in the study. They were older than five years old,transfusion dependent and on chelation therapy. Hepatic and Myocardial T2*MRI and the mean serum ferritin levels were measured during the study period for all patients.There is a significant correlation was observed between serum ferritin level and cardiac T2*MRI (p=0.018 ). also a significant correlation was observed between serum ferritin and hepatic T2*MRI (p=0.02). Neither cardiac T2* MRI nor hepatic T2* MRI show any correlation with the mean age.our study also showa positive correlation between the patients withcardiac T2* MRI and the development of diabetes mellitus in contrast to hepatic T2* MRI in which there is no any correlation. Hypothyroidism was observedno correlation with either cardiac or hepatic T2* MRI.Our results showed a positiveassociation between hepatic, cardiac T2*MRI and serum ferritin levels.

scholarly journals Left ventricular dysfunction in transfusion dependent beta Thalassemia major patients in Bangladesh

2016 ◽  
Vol 9 (1) ◽  
pp. 31-35
Author(s):  
Simu Saha ◽  
Tapash Saha ◽  
AKM Amirul Morshed ◽  
Md Lutful Ehsan Fatmi ◽  
Nazneen Umme Zakia ◽  
...  
Keyword(s):  
Diastolic Dysfunction ◽  
Serum Ferritin ◽  
Cardiac Dysfunction ◽  
Serum Ferritin Level ◽  
Ventricular Dysfunction ◽  
Early Stage ◽  
Ferritin Level ◽  
Thalassemia Major ◽  
Left Ventricular ◽  
Beta Thalassemia

Background: Thalassemia major is an inherited haemoglobin disorder resulting in chronic haemolytic anaemia. Patients with beta thalassemia major are maintained on continuous blood transfusion regimens resulting in iron overload that adversely affects both the structure and function of the heart and other vital organs which can be easily prevented with iron chelating therapy. The aim of the study was to detect left ventricular dysfunction at an early stage so that early effective intervention can be done.Methods: A total of 50 patients with beta thalassemia were included in the study by non randomized qualitative purposive sampling from July 2013 to June 2014. Their total body iron status was be assessed by doing serum ferritin level. Left ventricular systolic and diastolic function was assessed by echocardiographyResults: Cardiac dysfunction was present in 11 patients with high incidence in patients with low pre-transfusional haemoglobin group (p=0.4) and in patients having high serum ferritin level (p=0.02). Systolic cardiac dysfunction was present in 7(14%) of patients and diastolic dysfunction was present in 4(8%) of patients. There was a weak but significant correlation between left ventricular ejection fraction and serum ferritin concentration (r=-0.22; p=0.03). Only few (8%) patients had diastolic dysfunction.Conclusion: Patients with beta thalassaemia on an adequate transfusion showed an abnormal left ventricular systolic function. In early stage of disease diastolic function was normal but after repeated transfusion there were impaired relaxation indicating diastolic dysfunction. These findings seem mainly to be related to chronic anaemia and serum ferritin levelCardiovasc. j. 2016; 9(1): 31-35

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