scholarly journals Clinical case of hereditary hemochromatosis

2018 ◽  
Vol 99 (6) ◽  
pp. 998-1003
Author(s):  
A V Solov’eva ◽  
O V Kodyakova ◽  
I N Nikitina ◽  
N P Fomenko ◽  
D R Rakita

The article presents a clinical case demonstrating the difficulties of timely diagnosis of hereditary hemochromatosis, presents data on modern diagnosis and approaches to the treatment of the disease according to existing clinical guidelines. The described clinical case of hereditary hemochromatosis is associated with a homozygous mutation of C282Y in HFE gene in a 58-year-old patient and his twin brother. Initially, signs of iron deposition in the liver were found on MRI of the abdominal cavity. In laboratory analyses, the patient was found to have an increased level of serum iron - 40 µmol/l and ferritin - 1340 ng/ml. Subsequently, the investigation of HFE gene mutations was carried out and a mutation of C282Y in homozygous form (genotype A/A) was found, which is a molecular genetic confirmation of hereditary hemochromatosis of type 1. At the same time, the patient's twin brother at the targeted examination had the serum iron level of 36 µmol/l, the ferritin level of 600 ng/ml, and also the mutation of HFE gene, the allelic variant of A/A. The results of liver fibroelastometry of the patient correlate with the degree of fibrosis F1 by Metavir scale. Timely started therapeutic phlebotomies led to improved clinical and laboratory parameters of iron metabolism while maintaining normal levels of red blood cells and hemoglobin.

2020 ◽  
Vol 5 (4) ◽  
pp. 189-195
Author(s):  
Fei Fei Guo ◽  
◽  
Shi Jia Cheng ◽  
Yi Ning Liu ◽  
Jiu Wei Cui ◽  
...  

Background An increasing number of studies have shown that iron, one of the indispensable trace elements in the human body, is closely related to the occurrence and development of cancer. However, few studies have clearly demonstrated the role of the iron levels in lung cancer patients, or the potential effects of inflammation on iron levels. Methods The clinical data for lung cancer patients and non-lung cancer participants were retrospectively analyzed. The serum iron and ferritin levels were measured and compared using a rank-sum test. The correlation between the serum iron/ferritin and C-reactive protein (CRP) was analyzed by rank correlation. The cut-off values for continuous variables were obtained by the receiver operating characteristic curve (ROC) method. An analysis of potential prognostic factors in lung cancer patients was conducted by univariate and multivariate survival analyses. Results The serum iron levels in patients with extensive small-cell lung cancer (SCLC) were lower than those with limited-stage SCLC, and the levels of serum ferritin and CRP in those with extensive SCLC were higher than those with limited-stage SCLC. Similarly, the serum iron levels in patients with stage IV non-small cell lung cancer (NSCLC) were lower than those of patients with stage Ⅰ-Ⅲ disease, and the levels of serum ferritin and CRP in those with stage IV NSCLC were higher than those in stages Ⅰ-Ⅲ. The serum iron level was negatively correlated with the level of CRP, while the serum ferritin level was positively correlated with CRP. The stage of lung cancer, but not the serum iron/ ferritin level, was an independent prognostic factor in lung cancer patients. Conclusions The serum iron and ferritin levels are associated with the staging of lung cancer. The later stages of lung cancer are associated with a lower serum iron level, a higher serum ferritin level, and a higher CRP level. Inflammation may play an important role in regulating the serum iron and ferritin levels in lung cancer patients.


Author(s):  
Irna Diyana Kartika ◽  
Lince Wijoyo ◽  
Syahraswati Syahraswati ◽  
Rachmawati Muhiddin ◽  
Darwati Muhadi ◽  
...  

Blood donation is a process of taking blood from someone, either voluntarily or as a replacement donor blood banked for later usein blood transfusions. Regular donors are donors who regularly donate blood between 3−4 times a year. Nonregular donors are thosewho do not routinely donate blood in a year. Each donor donating one bag of blood, suffered a loss of approximately 200 mg of iron.The purpose of this study was to know the differences in the levels of iron profiles in regular and nonregular donors. The study wasconducted cross sectional on 65 samples of blood from the UPTD Transfusi Darah South Sulawesi Provincial Health Office, consisting of34 regular donors and 31 nonregular donors. Serum iron and TIBC levels were examined using ABX Pentra 400 with colorimetric andimmunoturbidimetry method. Ferritin level was examined using Elecsys with ECLIA principle. The data were then analyzed by unpairedT test. In this study, the regular donors showed an average serum iron level of 87.09 μg/dL, TIBC level 255.41 μg/dL and ferritin level121.27 μg/dL. The nonregular donors, showed an average serum iron level of 83.26 μg/dL, TIBC level was 261.80 μg/dL and ferritinlevel was 158.62 μg/dL. The results showed no significant differences between the levels of iron profiles in regular and nonregulardonors. Based on this study, it can be concluded that regular and nonregular blood donation did not affect the levels of iron profiles. Itis recommended to conduct a further cohort research to know the levels of iron profiles in blood donors by comparing before and afterdonating blood.


Author(s):  
Irna Diyana Kartika ◽  
Lince Wijoyo ◽  
Syahraswati Syahraswati ◽  
Rachmawati Muhiddin ◽  
Darwati Muhadi ◽  
...  

Blood donation is a process of taking blood from someone, either voluntarily or as a replacement donor blood banked for later usein blood transfusions. Regular donors are donors who regularly donate blood between 3-4 times a year. Nonregular donors are those who do not routinely donate blood in a year. Each donor donating one bag of blood, suffered a loss of approximately 200 mg of iron. The purpose of this study was to know the differences in the levels of iron profiles in regular and nonregular donors. The study was conducted cross sectional on 65 samples of blood from the UPTD Transfusi Darah South Sulawesi Provincial Health Office, consisting of 34 regular donors and 31 nonregular donors. Serum iron and TIBC levels were examined using ABX Pentra 400 with colorimetric and immunoturbidimetry method. Ferritin level was examined using Elecsys with ECLIA principle. The data were then analyzed by unpaired T test. In this study, the regular donors showed an average serum iron level of 87.09 μg/dL, TIBC level 255.41 μg/dL and ferritin level 121.27 μg/dL. The nonregular donors, showed an average serum iron level of 83.26 μg/dL, TIBC level was 261.80 μg/dL and ferritin level was 158.62 μg/dL. The results showed no significant differences between the levels of iron profiles in regular and nonregular donors. Based on this study, it can be concluded that regular and nonregular blood donation did not affect the levels of iron profiles. It is recommended to conduct a further cohort research to know the levels of iron profiles in blood donors by comparing before and after donating blood.


2021 ◽  
Vol 33 (1) ◽  
pp. 34-39
Author(s):  
Md Yousuf Ali ◽  
Md Ehsanul Alam ◽  
Aminur Rahman ◽  
Nadira Majid

Background: Anaemia due to advanced stages of chronic kidney disease increases morbidity of patients. Early detection and correction of anaemia may be helpful in preventing the progress of the disease & its cardiovascular outcomes. The objective of this study was to evaluate hemoglobin, serum iron level and cardiovascular status in advanced of CKD patients. Methods: This was a cross sectional observational study on 150 cases of diagnosed advanced stages (3B,4 &5) of CKD patients in indoor of department of medicine of Mitford Hospital, Dhaka from July 2019 to January 2020. Convenience sampling was done. Data were analyzed with SPSS 26. Results: Total number of patients were 150. Male were 93 (62%) and female were 57 (38%). The mean (±SD) age was 55.22 (±10.30) years (range 33 - 75 years). Among the study subjects 38% had history of blood transfusion, 60% had history of iron supplementation and 12% subjects received erythropoietin. Mean (±SD) haemoglobin level was 7.61 (±2.54) g/dl. Seventy percent of the study subjects had haemoglobin level < 9 g/dl and rest had ³9 g/dl. Significant difference was found in between these two groups (p = 0.036). In the present study, mean (±SD) serum iron level was 15.59 (±07.39) μmol/l. In 46% of the study subjects, iron level was 7.3μ mol/l and 52% had iron level between 7.3 to 23.6 μmole/ lit. Mean (± SD) ferritin level of the study subjects was 155.22 (±92.32) ng/ ml. In 58% of the study subjects ferritin level was < 100ng/ ml and 42% had >100 ng/ml. Significant difference was found in between these two groups (p = 0.041) (Table-IV). Ferritin level had significant positive relationship with blood transfusion, iron and erythropoietin supplementation on logistic regression analysis. Haemoglobin and serum ferritin level was positively correlated with eGFR of the study subjects. Statistical analysis showed significant relationship between eGFR with haemoglobin and serum ferritin. Forty six percent of the study subjects had Transferrin saturation (TSAT) level below 20%. Fifty four percent subjects had a TSAT level above 20%. Significant difference was found in between these two groups (p = 0.001). In correlation analysis, haemoglobin, serum ferritin and TSAT level in the study subjects had negative relationship with duration of CKD in years. Relationship of haemoglobin and TSAT level with duration of CKD was statistically significant. In correlation analysis, serum TIBC level had negative relationship with haemoglobin level which was statistically significant. Serum iron, ferritin and TSAT level in the study subjects were positively correlated with haemoglobin level. Relationship of haemoglobin with serum iron level and TSAT level was statistically significant. Twenty percent of the study subjects had peripheral vascular disease, 111 (74%) of the study subjects had hypertension, 66 (44%) had ischaemic heart disease, 27 (18%) had a history of acute myocardial infarction, 24 (16%) had chronic heart failure, 93 (62%) had dyslipidemia and 27 (18%) patients had history of stroke. Conclusion: In this study it was observed that TSAT appears to be a more useful indicator for measuring the frequency of iron deficiency than serum iron, TIBC and serum ferritin. The cardiovascular comorbidities plagued significant number of patients with advanced CKD. Bangladesh J Medicine July 2022; 33(1) : 34-39


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Kentaro Tojo ◽  
Yoh Sugawara ◽  
Yasufumi Oi ◽  
Fumihiro Ogawa ◽  
Takuma Higurashi ◽  
...  

2013 ◽  
Vol 4 (3) ◽  
pp. 193-202 ◽  
Author(s):  
Zühre Kaya

Iron deficiency is one of the commonest nutritional deficiencies in the world. It is multifactorial and may be caused by lack of intake, blood loss and intestinal causes. Clinical features are highly variable, and most patients are asymptomatic. Typical laboratory features of iron deficiency anemia (IDA) include a hypochromic microcytic anemia, low serum iron level, high total iron binding capacity, low serum ferritin level. Usefulness of monitoring serum transferrin receptor level (sTfR) and hepcidin for identifying IDA have been examined in a few studies. Available data suggest that sTfR can potentially become a valuable tool for regular testing of patients in the future. Despite IDA is easily corrected with iron therapy, establishing the cause can be difficult, particularly in cases caused by disorders of iron transport. Education for clinician needs to focus on increasing awareness of the importance of failure respond to iron supplementation. The aim of this review was to outline the current strategies for the diagnosis and management of IDA in the light of the latest reports.


2017 ◽  
Vol 5 (5(SE)) ◽  
pp. 37-41
Author(s):  
Andrew Pradeep M ◽  
Indira G ◽  
Sethu Nagarajan R

Cancer is a group of diseases in which cells are aggressive, invasive and sometimes metastatic. Nutritional status an important factor that contributes to immune competence for which trace minerals plays a crucial role in the biochemical and physiological activity of the system. Trace element a category of minerals essential for the biological system and plays an active role in immune effector mechanism.  Normal range of iron essential for body metabolism, iron deficiencies leads to anemia which might complicate the event of tumor genesis. Study involved 50 volunteers (36 females, 14 males) of cancer patients of Mohan Nursing Home Madurai. Serum was collected in the informed consent of the patients. Serum iron level was quantified using Atomic Absorption Spectrophotometer. Study documented percentage deviation of serum iron concentration (85%) with severe anemic prevalence from the control individual (without cancer) and also establish an association of iron deficiency with anemic prevalence. Study documented the existence of Iron deficiency which is the most common cause of anemia worldwide. Iron plays a role in oxygen transfer in cytochromes, protein molecules involved in the production of energy in cells and also exhibit certain properties to facilitate antitumor status. Study concludes that serum iron modulations need to be emphasized to minimize the burdenization of the host with Clinical associated complications of Iron deficiency among patients with cancer.


Blood ◽  
1964 ◽  
Vol 23 (5) ◽  
pp. 679-687 ◽  
Author(s):  
SHU CHU SHEN ◽  
PETER Y. C. WONG ◽  
MASSAO OGURO

Abstract Rats fed a diet deficient in pyridoxine all exhibited a severe microcytic hypochromic anemia after 40 to 50 weeks. This anemia responded promptly to pyridoxine administration. The myeloid:erythroid ratio in the bone marrow of the severely anemic rats was definitely increased, suggestive of hypoplasia of the erythroid series, after prolonged deprivation of pyridoxine. The ratio was markedly decreased shortly after the inception of pyridoxine treatment, indicating active erythropoiesis induced by therapy; the ratio subsequently returned toward normal when hemoglobin level improved. There was no evidence of accumulation of iron in the bone marrow. The serum iron level increased only slightly, to high-normal values in the anemic rats, but fell to low-normal level after the administration of pyridoxine.


2020 ◽  
Vol 7 (7) ◽  
Author(s):  
Kang Zhao ◽  
Jucun Huang ◽  
Dan Dai ◽  
Yuwei Feng ◽  
Liming Liu ◽  
...  

Abstract Background Various types of pulmonary diseases are associated with iron deficiency. However, information on iron status in coronavirus disease 2019 (COVID-19) is scarce. Methods This study included 50 hospitalized patients with confirmed COVID-19. The role of serum iron in predicting severity and mortality of COVID-19 was evaluated. Results The most common symptoms of COVID-19 patients in this study were cough (82%), fever (64%), and chest distress (42%). Of the 50 patients, 45 (90%) patients had abnormally low serum iron levels (&lt;7.8 μmol/L). The severity of COVID-19 was negatively correlated with serum iron levels before and after treatment and was positively correlated with C-reactive protein, serum amyloid A, D-dimer, lactate dehydrogenase, urea nitrogen, and myoglobin levels. Decreased serum iron level could predict the transition of COVID-19 from mild to severe and critical illness. Seven (53.8%) patients with a lower serum iron level after treatment in the critical group had died. There was a significant difference in posttreatment serum iron levels between COVID-19 survivors and nonsurvivors. Conclusions Serum iron deficiency was detected in the patients with COVID-19. The severity and mortality of the disease was closely correlated with serum iron levels. Low serum iron concentration was an independent risk factor for death in COVID-19 patients.


1997 ◽  
Vol 20 (2) ◽  
pp. 239
Author(s):  
Eun Hee Jo ◽  
Young Chul Kim ◽  
Haing Won Woo

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