Search results for: thalassemia.

Authors: K .Belhadi, H. Bousselsela, M. Yahia, A. Zidani, S. Benbia

Abstract:

Sickle cell anemia is a recessive genetic disease caused by the presence in the red blood cell, of abnormal hemoglobin called hemoglobin S. It results from the replacement in the beta chain of the acid glutamic acid by valin at position 6. Topics may be homozygous (SS) or heterozygous (AS) most often asymptomatic. Other mutations result in compound heterozygous: - Synthesis of hemoglobin C mutation in the sixth leucin codon (heterozygous SC); - ß-thalassemia (heterozygous S-ß thalassemia). SS homozygous, heterozygous SC and S- ß -thalassemia are grouped under the major sickle cell syndromes. To make a laboratory diagnosis of hemoglobinopathies in a portion of the population in region of Batna, our study was conducted on 115 patients with suspected sickle cell anemia, all cases have benefited from hematological tests as blood count (count RBC, calculated erythrocyte indices, MCV and MCHC, measuring the hemoglobin concentration) and a biochemical test in this case electrophoresis CAPILLARYS HEMOGLOBIN (E). The results showed: 27 cases of sickle cell anemia were found on 115 suspected cases, 73,03% homozygous sickle cell disease and 59,25% sickle cell trait. Finally, the double heterozygous S/C, represent the incidence rate of 3, 70%.

Keywords: Hemoglobin, sickle cell syndromes, laboratory diagnosis

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Authors: Surajit Debnath, Soma Addya

Abstract:

Human genome is not only the evolutionary summation of all advantageous events, but also houses lesions of deleterious foot prints. A single gene mutation sometimes may express multiple consequences in numerous tissues and a linear relationship of the genotype and the phenotype may often be obscure. ß Thalassemia minor, a transfusion independent mild anaemia, coupled with environment among other factors may articulate into phenotypic pleotropy with Hypocholesterolemia, Vitamin D deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological alterations. Occurrence of Pancreatic insufficiency, resultant steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2 4.60% and Hb Adult 84.80% and altered Hemogram) with increased Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2 (9.5mg/ml) indicate towards a cascade of phenotypic pleotropy where the ß Thalassemia mutation ,be it in the 5’ cap site of the mRNA , differential splicing etc in heterozygous state is effecting several metabolic pathways. Compensatory extramedulary hematopoiesis may not coped up well with the stressful life style of the young individual and increased erythropoietic stress with high demand for cholesterol for RBC membrane synthesis may have resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia may have caused the pancreatic insufficiency, leading to Vitamin D deficiency. This may in turn have caused the secondary hyperparathyroidism to sustain serum Calcium level. Irritability and stress intolerance of the patient was a cumulative effect of the vicious cycle of metabolic compromises. From these findings we propose that the metabolic deficiencies in the ß Thalassemia mutations may be considered as the phenotypic display of the pleotropy to explain the genetic epidemiology. According to the recommendations from the NIH Workshop on Gene-Environment Interplay in Common Complex Diseases: Forging an Integrative Model, study design of observations should be informed by gene-environment hypotheses and results of a study (genetic diseases) should be published to inform future hypotheses. Variety of approaches is needed to capture data on all possible aspects, each of which is likely to contribute to the etiology of disease. Speakers also agreed that there is a need for development of new statistical methods and measurement tools to appraise information that may be missed out by conventional method where large sample size is needed to segregate considerable effect. A meta analytic cohort study in future may bring about significant insight on to the title comment.

Keywords: Genetic disease, Genetic epidemiology, Heterozygous, Phenotype, Pleotropy, ß Thalassemia minor, Metabolic compromises.

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Authors: Giovanni Luca Masala

Abstract:

Pattern recognition is the research area of Artificial Intelligence that studies the operation and design of systems that recognize patterns in the data. Important application areas are image analysis, character recognition, fingerprint classification, speech analysis, DNA sequence identification, man and machine diagnostics, person identification and industrial inspection. The interest in improving the classification systems of data analysis is independent from the context of applications. In fact, in many studies it is often the case to have to recognize and to distinguish groups of various objects, which requires the need for valid instruments capable to perform this task. The objective of this article is to show several methodologies of Artificial Intelligence for data classification applied to biomedical patterns. In particular, this work deals with the realization of a Computer-Aided Detection system (CADe) that is able to assist the radiologist in identifying types of mammary tumor lesions. As an additional biomedical application of the classification systems, we present a study conducted on blood samples which shows how these methods may help to distinguish between carriers of Thalassemia (or Mediterranean Anaemia) and healthy subjects.

Keywords: Computer Aided Detection, mammary tumor, pattern recognition, thalassemia.

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Authors: Fawzi Irshaid, Kamal Mansi

Abstract:

Thyroid dysfunction is one of the most frequently reported complications of chronic blood transfusion therapy in patients with beta-thalassemia major (BTM). However, the occurrence of thyroid dysfunction and its possible association with iron overload in BTM patients is still under debate. Therefore, this study aimed to investigate the status of thyroid functions and iron overload in adolescent and young adult patients with BTM in Jordan population. Thirty six BTM patients aged 12-28 years and matched controls were included in this study. All patients have been receiving frequent blood transfusion to maintain pretransfusion hemoglobin concentration above 10 g dl-1 and deferoxamine at a dose of 45 mg kg-1 day-1 (8 h, 5-7 days/week) by subcutaneous infusion. Blood samples were drawn from patients and controls. The status of thyroid functions and iron overload was evaluated by measurements of serum free thyroxine (FT4), triiodothyronine (FT3), thyrotropin (TSH) and serum ferritin level. A number of some hematological and biochemical parameters were also measured. It was found that hematocrit, serum ferritin, hemoglobin, FT3 and zinc, copper mean values were significantly higher in the patients than in the controls (P< 0.05). On other hand, leukocyte, FT4 and TSH mean values were similar to that of the controls. In addition, our data also indicated that all of the above examined parameters were not significantly affected by the patient-s age and gender. Deferoxamine approach for removing excess iron from our BTM patient did not normalize the values of serum ferritin, copper and zinc, suggesting poor compliance with deferoxamine chelation therapy. Thus, we recommend the use of a combination of deferoxamine and deferiprone to reduce the risk of excess of iron in our patients. Furthermore, thyroid dysfunction appears to be a rare complication, because our patients showed normal mean levels for serum TSH and FT4. However, high mean levels of serum ferritin, zinc, copper might be seen as potential risk factors for initiation and development of thyroid dysfunctions and other diseases. Therefore, further studies must be carried out at yearly intervals with large sample number, to detect subclinical thyroid dysfunction cases.

Keywords: beta-thalassemia major, deferoxamine, iron overload, triiodothyronine, zinc.

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Authors: Giovanni Luca Masala

Abstract:

Pattern recognition is the research area of Artificial Intelligence that studies the operation and design of systems that recognize patterns in the data. Important application areas are image analysis, character recognition, fingerprint classification, speech analysis, DNA sequence identification, man and machine diagnostics, person identification and industrial inspection. The interest in improving the classification systems of data analysis is independent from the context of applications. In fact, in many studies it is often the case to have to recognize and to distinguish groups of various objects, which requires the need for valid instruments capable to perform this task. The objective of this article is to show several methodologies of Artificial Intelligence for data classification applied to biomedical patterns. In particular, this work deals with the realization of a Computer-Aided Detection system (CADe) that is able to assist the radiologist in identifying types of mammary tumor lesions. As an additional biomedical application of the classification systems, we present a study conducted on blood samples which shows how these methods may help to distinguish between carriers of Thalassemia (or Mediterranean Anaemia) and healthy subjects.

Keywords: Computer Aided Detection, mammary tumor, pattern recognition, dissimilarity

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