International Conference in Recent Trends in Information Technology and Computer Science (ICRTITCS - 2012) Proceedings published in International Journal of Computer Applications® (IJCA) (0975 – 8887) 1 Beta Thalassemia Major and Minor Classification using Artificial Neural Network Anand Upadhyay Department of Information Technology Thakur College of Science & Commerce Thakur village, Kandivali (E), Mumbai-101 ABSTRACT The thalassemias are now the very dangerous group of anemia’s caused by mutation affecting the synthesis of hemoglobin. The thalassemias are a bag of heterogeneous group of inherited anemias. The thalassemias are very common in the region of the persons of Mediterranean, African, and Southeast Asian descent. Thalassemia trait affects 5 to 30 percent of persons in these ethnic groups Scientists and public health officials predict that thalassemia will become a worldwide issue in the next century. Thalassemia consists of a number of different forms of anemia. The two main types are called Alpha & Beta Thalassemias. The Alpha and Beta thalassemia depends on which part of hemoglobin is lacking in the red blood cells. The impact of alpha thalassemias is concentrated in South East Asia, Malaysia and Southern China. The problem of beta thalassemia is seen primarily in the areas surrounding Mediterranean Sea, Africa and South East Asia. The main objective of this ANN model is to classify the Beta Thalassemias person based on there quantitative blood test. This model helps those people who are organizing the camp for Thalassemia person detection to spread awareness among people and prevent the birth of beta thalassemia major child by pre-marriage counseling. General Terms Data classification, Artificial Neural Network, Supervised Learning Keywords Thalassemias, Mutation, Alpha Thalassemia, Beta Thalassemia, Anemia 1. INTRODUCTION The problem of Thalassemia is caused due to the group of inherited autosomal recessive blood disorders that originated in the Mediterranean region. Thalassemia is the genetic defect which is transmitted from one generation to the other generation. The genetic defect of thalassemia could cause either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin’s. This can cause the formation of abnormal hemoglobin molecules which causing anemia. The abnormal hemoglobin molecules present the symptom of the thalassemias. Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell disease (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemia is usually resulting in underproduction of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathy means structural abnormalities in the globin proteins themselves. Here, the two conditions may overlap since some conditions that cause abnormalities in globins’ proteins (hemoglobinopathy) also affect their thalassemia. Thus, some thalassemias are hemoglobinopathy, but most are not. Either or both of these conditions may cause anemia [5]. 1.2 Alpha Thalassemia The Alpha thalassemia is one of the types of the thalassemia which is caused by mutations in the alpha chain of the hemoglobin molecule. Normally, there are two alpha chain genes located on each #16 chromosome, for a total of 4. The alpha chain is an important component of fetal hemoglobin. The fetal hemoglobin is usually made before birth the birth of the child where as hemoglobin A and hemoglobin A2 are produces after the birth of the child. How these genes are altered determines the specific type of alpha thalassemia in a child. In Alpha thalassemia major affected person all four alpha chain genes are deleted or mutated. This is so severe that death of child can occur in prior to birth of the child. The Alpha thalassemia patients require the intrauterine transfusions are often necessary to carry a baby to term and after birth. All these babies are dependent on red blood cell transfusions. The mother is carrying such kind of baby also under the health risk. Alpha thalassemia carriers are the person whose two alpha chain genes are deleted either both from the same #16 chromosome called a "cis deletion” or one from both #16 chromosomes, called a "trans deletion" .When the parents are carriers of the cis deletion #16 chromosome, then they are one out of the four person .the percentage of the cis deletion alpha thalassemia patients are 25% chance with each pregnancy, to have a baby with alpha thalassemia major. Such types of carriers of the cis deletion versus the Trans deletion can be distinguished by DNA analysis only. DNA testing is usually done from a blood sample to look at the alpha chain genes on each #16 chromosome, to determine which are deleted. 1.3 Beta Thalassemia The Beta thalassemia is another type of the thalassemia which caused due to defect in the production of beta globin protein from the beta genes. It is the most common cause of beta thalassemia. In the human cell both types of goblin genes are present but fail to produce hemoglobin adequately. If one of the beta globin gene fails, the amount of beta globin the cells is reduced by half. There are hundreds of mutations within the beta globin gene, but approximately 20 different alleles comprise 80% of the mutations found worldwide. If we find out within each geographic population there are unique mutations among the each. Individuals who have beta thalassemia major are usually homozygous for one of the common mutations or heterozygous for one of the common mutations and one of the geographically unique mutations.