title: Hb Alesha [β67(E11)Val→Met (GTG>ATG); HBB: c.202G > A] Found in a Chinese Girl.
abstract: Mutations that cause destabilization of the hemoglobin (Hb) tetramer are a rare cause of hemolytic anemia. In contrast to the hemolytic anemia caused by enzyme deficiencies, a dominant mode of inheritance characterizes the unstable Hbs. Hb Alesha [β67(E11)Val→Met; HBB: c.202G>A] is caused by a G>A mutation at codon 67 of the β-globin gene, resulting in a valine to methionine substitution at helix E11. This replacement disrupts the apolar bonds between valine and the heme group, producing an unstable Hb and severe hemolysis. We report this rare hemoglobinopathy in a Chinese girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell (RBC) transfusions.
authors.affiliation: a Department of Hematology/Oncology , Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangdong , People's Republic of China.
authors.forename: Hua
authors.initials: H
authors.lastname: Jiang
authors.affiliation: b Prenatal Diagnostic Center , Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangdong , Guangdong , People's Republic of China.
authors.forename: Jin-Mei
authors.initials: JM
authors.lastname: Yan
authors.affiliation: b Prenatal Diagnostic Center , Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangdong , Guangdong , People's Republic of China.
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.affiliation: b Prenatal Diagnostic Center , Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangdong , Guangdong , People's Republic of China.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D019943:Amino Acid Substitution; D000743:Anemia, Hemolytic / Q000150:complications / Q000235:genetics*; D044466:Asian People; D002675:Child, Preschool; D017707:Erythrocyte Transfusion; D005260:Female; D006453:Hemoglobinopathies / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D055550:Protein Stability; D013163:Splenomegaly / Q000209:etiology; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C082233:hemoglobin Alesha
keywords: Hb Alesha; hemolytic anemia; unstable hemoglobin