Thalassemia, a human blood disorder

Abstract A group of inherited blood defects is known as Thalassemia among the world’s most prevalent hemoglobinopathies. Thalassemias are two types such Alpha and Beta Thalassemia. The cause these gene mutations leading to low levels and/or malfunctioning ? ? globin proteins, respectively. In some cases, one proteins may be completely absent. chains form a fold or pocket for heme (Fe++) attachment carry oxygen. Genes alpha beta-globin present in cluster on chromosome 16 11, Different genes used at different stages life course. During embryonic fetal developmental stages, ? partner with later replaced by protein. Globin chain imbalances result hemolysis impede erythropoiesis. Individuals showing mild symptoms include carriers thalassemia people bearing beta-thalassemia trait. causes conditions like hemolytic anemia fatal hydrops fetalis depending upon severity disease. major results anemia, growth retardation, skeletal aberrations early childhood. Children affected this disorder need regular transfusions throughout their lives. Patients that depend transfusion usually develop iron overload other complications body systems renal hepatic impairment therefore, thalassemias now categorized syndrome. only cure would bone marrow transplant, therapy currently no significant success rate. thorough understanding molecular basis syndrome provide novel insights ideas its treatment, scientists have still been unable find permanent deadly disease after more than 87 years since it first described 1925.