In some thalassemia patients with equivocal phenotypic results, genetic testing for specific thalassemia mutations may be required. A diagnosis of alpha thalassemia trait can be made by demonstrating Hemoglobin H bodies on the peripheral blood smear using special stains. A diagnosis of beta thalassemia trait can be made by the detection of an elevated Hb A2. Also, certain features on the complete blood count (CBC) indices can suggest thalassemia trait such as microcytosis out of proportion to the anaemia along with a raised RBC count. Thalassemia trait (or minor) should be considered when there is a microcytic anaemia that is not improving with iron therapy or when anaemia predates the pregnancy, especially in a patient from a high risk ethnic group. However, both alpha and beta thalassemia trait cause microcytic, hypochromic anaemia and are commonly misdiagnosed as IDA. Iron deficiency anaemia (IDA) accounts for most cases (55% - 70%) depending on the population being studied. Anaemia in pregnancy is common, occurring in approximately 38% of pregnancies.
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