Lecture 7-Hemoglobinopathies_SFSU_Lu.pdf

Lecture 7-Hemoglobinopathies_SFSU_Lu.pdf -...

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Hemoglobinopathies (Intracorpuscular defects Hemolysis) Chuanyi Mark Lu, MD PhD Faculty, Department of Biology, SFSU Professor, Department of Laboratory Medicine, UCSF Hematopathologist, UCSFMC and SF VAMC
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Hemoglobin Structure (also spelled as Haemoglobin ; abbreviated as Hb or Hgb ) Quaternary structure of Hgb
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Hemoglobin Synthesis Embryo: α 2 ε 2 (Gower 2) ζ 2 ε 2 (Gower 1) ζ 2 γ 2 (Portland) Fetus: α 2 γ 2 (F) >1 year old: α 2 β 2 (A) 95 97% α 2 δ 2 (A 2 ) 2 3% α 2 γ 2 (F) 1 2%
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Locations of the globin genes on chromosomes 16 and 11
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Hemoglobinopathies: Classification Abnormal ( variant ) hemoglobins without clinical significance Unbalanced synthesis of hemoglobin (thalassemia) Aggregating hemoglobins (structural abnormalities with amino acid substitution away from the crevice of the heme, i.e., HbS, HbC) Unstable hemoglobins (instability prone to denature and precipitate) Hemoglobins with abnormal heme function (structural abnormalities with amino acid substitution near the crevice of the heme): Hemoglobin M variants Hemoglobin variants with altered oxygen affinity (e.g., high affinity hemoglobin )
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Normal distribution of hemoglobin Hemoglobin A: 96 98% Hemoglobin A 2 : 2 3% Hemoglobin F: <1% Hemoglobin F: 55 85% Hemoglobin A: 15 45% Hemoglobin A 2 : trace Adults Newborns
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