Hemoglobinopathy Hereditary disorders that can result in moderate to severe anemia. Abnormal hemoglobin is production of an abnormal globin chain. Thalassemia is reduced production of selected globin chains
Hemoglobinopathy Abnormal hemoglobin is production of an abnormal globin chain. Thalassemia is reduced production of selected globin chains. Hereditary disorders that can result in moderate to severe anemia
Terminology of Hemoglobin Hemoglobins abnormal hemoglobins discovered earlier have been given letter designations Hb A;Hb F:Hb S *More recently discovered hemoglobins have been named by the city or location of discovery Hb Constant Spring;Hb Harbin
Terminology of Hemoglobin ❖ Hemoglobins & abnormal hemoglobins discovered earlier have been given letter designations Hb A; Hb F; Hb S ❖ More recently discovered hemoglobins have been named by the city or location of discovery Hb Constant Spring; Hb Harbin
Amino Acid Substitution Greek letter designates affected globin chain *Superscript number designates affected amino acid(s) Amino acid substitutions are denoted by the three letter abbreviation for the normally occurring amino acid followed by an arrow followed by the three letter abbreviation for the substituted amino acid
Amino Acid Substitution ❖ Greek letter designates affected globin chain ❖ Amino acid substitutions are denoted by the three letter abbreviation for the normally occurring amino acid followed by an arrow followed by the three letter abbreviation for the substituted amino acid ❖ Superscript number designates affected amino acid(s)
Pathogenesis *Missense mutation
Pathogenesis ❖ Missense mutation
Missense Mutation Sickle cell disease(HbS)
Sickle cell disease (HbS) Missense Mutation