Tehran University Medical Journal

Background: Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemia, and bone marrow failure (aplastic anemia). FA has been reported in all races and ethnic groups and affects men and women in an equal proportion. The frequency of FA has been estimated at approximately 1 per 360,000 live births. In some populations, including Ashkenazi Jews, Turks, Saudi Arabians and Iranians, this frequency appears to be higher, probably as a result of the founder effect and consanguineous marriage. Because of extensive genetic and clinical heterogeneity (the age of onset, clinical manifestations and survival), diagnosis of FA on the basis of clinical data alone is unreliable and its molecular diagnosis is difficult. The diagnosis of FA exploits the hypersensitivity of FA lymphocytes and fibroblasts to bifunctional alkylating agents such as mitomycin C (MMC), diepoxybutane (DEB) and nitrogen mustard and differentiates it from idiopathic aplastic anemia. In this study, in addition to the patients' clinical profiles, a cytogenetic test using MMC was implemented for an accurate diagnosis of Fanconi anemia.

Methods: In this study, the lymphocytes of 20 patients referred for FA, and those of their normal sex-matched controls, were treated with three different concentrations of mitomycin C (20, 30, 40 ng/ml). Slides were prepared and solid stained. In order to determine the number and kind of chromosome abnormalities, 50 metaphase spreads from each culture were analyzed. Clinical information was obtained from patient files.

Results: Five patients manifested increased chromosome breakage with MMC, confirming the FA diagnosis. Two different concentrations of MMC (30, 40 ng/ml) were most effective.

Conclusion: The chromosomal breakage test is important for the accurate diagnosis of Fanconi anemia. DNA crosslinking agents used to treat idiopathic aplastic anemia may be lethal for patients with FA. Thus, aplastic anemia patients with unknown etiology, infants with congenital abnormalities involved in FA and siblings of FA patients should also be cytogenetically tested.

Background: Anemia is a common complication accompanied by high morbidity and mortality in hemodialysis patients. Considering the fact that the reduction of erythropoietin (EPO) synthesis is the main cause of uremic anemia, receiving recombinant human erythropoietin (rHuEPO) can improve the condition in these patients. Some of these hemodialysis patients, however, have acceptable hemoglobin levels without any need to EPO. Higher BMI, higher albumin and leptin plasma levels and longer durations of hemodialysis are possible factors contributing to the reduced need for rHuEPO in these patients. The present study is designed to asses the relationship between the plasma levels of leptin and the reduced EPO need.

Methods: Fifty eligible hemodialysis patients with hemoglobin levels higher than 11 mg/dl were enrolled in the cross-sectional study. The information on age, sex, hemodialysis duration and the cause of renal dysfunction were extracted from the files. The baseline plasma levels of Leptin and albumin were measured. The patients BMI and the weekly need for rHuEPO were also calculated.

Results: There was no correlation between the weekly need for rHuEPO and sex, BMI, the cause of renal dysfunction and the plasma levels of albumin and leptin it, however, was related with age and the duration of dialysis. While age negatively influences the weekly need, the duration of dialysis has a positive effect on the need.

Conclusion: The plasma levels of leptin are not directly correlated with the required amounts of rHuEPO, indicating that leptin is not an effective factor in erythropoiesis. Conversely, older age and shorter hemodialysis durations are accompanied by reduced need for rHuEPO.

Background: Data mining is known as a process of discovering and analysing large amounts of data in order to find meaningful rules and trends. In healthcare, data mining offers numerous opportunities to study the unknown patterns in a data set. These patterns can be used to diagnosis, prognosis and treatment of patients by physicians. The main objective of this study was to predict the level of serum ferritin in women with anemia and to specify the basic predictive factors of iron deficiency anemia using data mining techniques.

Methods: In this research 690 patients and 22 variables have been studied in women population with anemia. These data include 11 laboratories and 11 clinical variables of patients related to the patients who have referred to the laboratory of Imam Hossein and Shohada-E- Haft Tir hospitals from April 2013 to April 2014. Decision tree technique has been used to build the model.

Results: The accuracy of the decision tree with all the variables is 75%. Different combinations of variables were examined in order to determine the best model to predict. Regarding the optimum obtained model of the decision tree, the RBC, MCH, MCHC, gastrointestinal cancer and gastrointestinal ulcer were identified as the most important predictive factors. The results indicate if the values of MCV, MCHC and MCH variables are normal and the value of RBC variable is lower than normal limitation, it is diagnosed that the patient is likely 90% iron deficiency anemia.

Conclusion: Regarding the simplicity and the low cost of the complete blood count examination, the model of decision tree was taken into consideration to diagnose iron deficiency anemia in patients. Also the impact of new factors such as gastrointestinal hemorrhoids, gastrointestinal surgeries, different gastrointestinal diseases and gastrointestinal ulcers are considered in this paper while the previous studies have been limited only to assess laboratory variables. The rules of the decision tree model can improve the process of diagnosing and treatment of the patients with iron deficiency anemia and reduce their costs.

Background: Anemia disease is the most common hematological disorder which most often occurs in women. Knowledge discovery from large volumes of data associated with records of the disease can improve medical services quality by data mining The goal of this study was to determining and evaluating the status of anemia using data mining algorithms.

Methods: In this applied study, laboratory and clinical data of the patients with anemia were studied in the population of women. The data have been gathered during a year in the laboratory of Imam Hossein and Shohada-ye Haft-e Tir Hospitals which contains 690 records and 15 laboratory and clinical features of anemia. To discover hidden relationships and structures using k-medoids algorithm the patients were clustered. The Silhouette index was used to determine clustering quality.

Results: The features of red blood cell (RBC), mean corpuscular hemoglobin (MCH), ferritin, gastrointestinal cancer (GI cancer), gastrointestinal surgery (GI surgery) and gastrointestinal infection (GI infection) by clustering have been determined as the most important patients’ features. These patients according to their features have been seg-mented to three clusters. First, the patients were clustered according to all features. The results showed that clustering with all features is not suitable because of weak structure of clustering. Then, each time the clustering was performed with different number of features. The silhouette index average is 80 percent that shows clustering quality. Therefore clustering is acceptable and has a strong structure.

Conclusion: The results showed that clustering with all features is not suitable because of weak structure. Then, each time the clustering was performed with different number of features. The first cluster contains mild iron deficiency anemia, the second cluster contains severe iron deficiency anemia patients and the third cluster contains patients with other anemia cause.