Laboratory diagnosis: (β-Thalassemia Major)●There is a severe hypochromic, microcytic anemia.●Raised reticulocyte percentage. ●Normoblasts, target cells and basophilic stippling in the blood film.
Pathogenesis of β-thalassemia major
Pathophysiology: β-Thalassemia MajorHeterozygous beta thalassemia. Some variation in size and shape is apparent, as is modest microcytosis and hypochromia. Platelets are also seen.
Basophilic stippling in thalassemia.
β-Thalassemia Minor
Hb H Disease:Three α gene deletions leads to a moderately severe (hemoglobin 7-11 g/dL) microcytic, hypochromic anemia with splenomegaly.