A Survey of Beta Thalassemia Patients With Various Characteristics Among The Sindhi Families

Abstract

Thalassemia is one of the major issues in the medical sciences. It is very common genetic disease is globally inherited hemoglobin abnormality. Mutation is only cause of Thalassemia in the alpha globin, hemoglobin A1 and A2 (HBA1/HBA2) and beta globin, Hemoglobin Subunit Beta (HBB) genes are usually inherited in an autosomal recessive manner. Thalassemia has emerged as a major public health concern. Research aim is to identify the prevalence of Beta Thalassemia among Sindhi families along with various connected diseases. This research was governed at the thalassemia health care center, Shaheed Benazirabad. This survey has conducted in the Sindh Province at thalassemia health care center Nawabshah in which 101 families data has been collected from the individuals with different disease are included in the survey. It has been observed that the ratio of beta Thalassemia is more common in male as compared to females. According to the data about 45% male and 65% females, 47% people are affected. During the childhood moderate and severe thalassemia is often diagnosed because symptoms usually appear during the first 2 years of a child's life. It has been concluded that the Thalassemia male patient has the higher frequency of thalassemia-affected as compared to female.

Background History:

Beta thalassemia also called as Cooley’s anemia, an American physician Dr. Thomas Cooley first described beta thalassemia in 1925 in Detroit as an inherited blood disease [1]. It is the most common prevalent genetic disease and it affects millions of children throughout the world. Approximate 1.5% (80 to 90 million) people of the world carriers for beta thalassemia, and its increasing with 50 to 60 thousands new cases being born every year [2]. In 2015, 280 million people with thalassemia was reported globally and resulted in 16,800 deaths [3]. It is a genetically hematological disease, caused by over 350 mutations in the beta globin gene [4]. It has estimated about 5-8% are carrier gene frequency and approximately 100,000 people are suffering with beta thalassemia in Pakistan.  About 7000-9000, children’s were diagnosed every year along with beta thalassemia in Pakistan [5, 6]. Sindh is the one of the province in Pakistan where beta thalassemia cases are prevalent. The aim of our research was to determine the prevalence of Beta thalassemia with various characteristics among the Sindh families.