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Microcytic anemia includes iron deficiency anemia (less iron), anemia of chronic disease (iron available but inaccessible), sideroblastic anemia (defect in heme synthesis) and thalassemia (defect in Globin synthesis).
Thalassemia comes from the Greek word “Thalassa” which means: the sea.
Beta thalassemia is common in Italy and Greece.
Symptoms of anemia are fatigue, pallor, shortness of breath, headache, dizziness, exercise intolerance, murmur (flow murmur, not organic), ischemia (angina pectoris).
It is subdivided into beta thalassemia major, beta thalassemia minor, and beta thalassemia intermedia.
The anemia is usually microcytic hypochromic. (Mean corpuscular volume “MCV” is low)
Hemoglobin is made up of heme and globin…Heme is made of iron plus protoporphyrin.
Chromosome 11 is involved, a non-sense DNA mutation leads to a premature stop codon formation which will cause termination of protein synthesis.
A defect in Beta globin chains synthesis leads to beta thalassemia.
Beta thalassemia can be usually diagnosed using hemoglobin electrophoresis.
Hair-on-end appearance can appear on an x-ray of the skull. (Radiological finding)
Beta thalassemia major is also known as Cooley’s anemia.
Management of thalassemia is discussed in a different video. Check out my playlist titled “Hematology/ Oncology”…https://goo.gl/KxAu6F
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In brief, beta thalassemia is a microcytic, hemolytic anemia that affects people living near the mediterranean sea. If you like my videos, please consider leaving a tip at https://www.paypal.me/perfectionalis/
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