Thall - The Thalassemias Louis Meng, PL2 PHO Elective...

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Unformatted text preview: The Thalassemias Louis Meng, PL2 PHO Elective Introduction Heritable, hypochromic anemias-varying degrees of severity Genetic defects result in decreased or absent production of mRNA and globin chain synthesis At least 100 distinct mutations High incidence in Asia, Africa, Mideast, and Mediterrenean countries Hemoglobin Review Each complex consists of : Four polypeptide chains, non-covalently bound Four heme complexes with iron bound Four O2 binding sites Globin Chains Alpha Globin 141 amino acids Coded for on Chromosome 16 Found in normal adult hemoglobin, A1 and A2 Beta Globin 146 amino acids Coded for on Chromosome 11, found in Hgb A1 Delta Globin Found in Hemoglobin A2--small amounts in all adults Gamma Globin Found in Fetal Hemoglobin Zeta Globin Found in embryonic hemoglobin Hemoglobin Types Hemoglobin Type Hgb A192%--------- Hgb A22.5%-------- Hgb F <1%--------- Hgb H ------------------ Barts Hgb-------------- Hgb S-------------------- Hgb C------------------- Globin Chains 2 2 2 2 2 2 4 4 2 2 6 glu val 2 2 6 glu lys Genetics Alpha globins are coded on chromosome 16 Two genes on each chromosome Four genes in each diploid cell Gene deletions result in Alpha-Thalassemias...
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Thall - The Thalassemias Louis Meng, PL2 PHO Elective...

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