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## Beta Thalassemia ### Silent Carrier State for β Thalassemia - Are various beta mutations that produce only small decrease in production of beta chains. - Patients have nearly normal beta/alpha chain ratio and no hematologic abnormalities. - Have normal levels of Hb A2. ### Beta Thalassemia Mino...

## Beta Thalassemia ### Silent Carrier State for β Thalassemia - Are various beta mutations that produce only small decrease in production of beta chains. - Patients have nearly normal beta/alpha chain ratio and no hematologic abnormalities. - Have normal levels of Hb A2. ### Beta Thalassemia Minor - Caused by heterozygous mutations that affect beta globin synthesis (onenormal beta gene and one mutated beta gene). - Usually presents as mild, asymptomatic hemolytic anemia. - Hemoglobin level in 10-13 g/dL range with normal or slightly elevated RBC count, microcytosis and hypochromia, with normal (or near normal)RDW. - Hb A2 is elevated - Should be differentiated from iron deficiency anemia. ### Beta Thalassemia Intermedia - Expression of disorder falls between thalassemia minor and thalassemiamajor. May be either heterozygous or homozygous - Patients are able to maintain minimum hemoglobin (7 g/dL or greater) without transfusions. - CBC shows moderate anemia with microcytosis and hypochromia - There is increase in both Hb A2 production and Hb F production. - Clinically the patient is transfusion independent except when under stresssuch as pregnancy, infection, or folic acid deficiency ### Beta Thalassemia Major - Also called Mediteranean Sea anemia - Detected early in childhood: - Infants fail to thrive. - Have pallor, variable degree of jaundice, abdominal enlargement, and hepatosplenomegaly. - Hemoglobin level between 4 and 8 gm/dL. - Marked bone changes due to expansion of marrow space for increased erythropoiesis causing characteristic changes in skull, long bones, and hand bones.