Because beta globin is not required before birth, beta-thalassemia is asymptomatic until 6 to 12 months after birth. An obvious consequence of the biosynthetic defect in thalassemia is the microcytosis and hypochromia owing to reduced amounts of hemoglobin tetramer in each red blood cell. However, the major pathologic process in the thalassemias is caused by the imbalance of alpha and non-alpha chain accumulation thalassemia, thalasemia, thalessemia. Hemoglobin Bart's and hemoglobin H are somewhat more soluble and result The alpha-globin gene is duplicated. The diagnosis of severe thalassemia is usually straight-forward.
Genetic counseling is mandatory.
In beta-thalassemia major, red blood cell transfusion is the mainstay of supportive therapy. Splenectomy Massive splenomegaly is usually avoided or delayed by a proper hypertransfusion regimen. However, splenic sequestration of donor cells can eventually cause an excessive transfusion requirement. Each unit of blood contains approximately 250 mg of iron. A typical hypertransfusion regimen encumbers each patient each year with an average of four times the normal total body iron burden.