Homozygous Lepore Syndrome: A case report.

ABSTRACT: •Lepore Hemoglobin is a structurally abnormal type of haemoglobin consisting of an abnormal globin chain which is a hybrid or fused globin chain comprising an N-terminal amino acid sequence of a delta chain and the C-terminal amino acid sequence of a beta chain.•The synthesis of these hybrid chains is substantially less than that of the β-chains, resulting in an overall reduction in the non-α globin chains and patients present with a clinical picture of haemolytic anemia.•But Hb Lepore can be differentiated from β-Thalassemia by the presence of a distinct Hb Lepore band on cellulose acetate electrophoresis or quantification in High Performance Liquid Chromatography (HPLC).•Presumptive diagnosis can be made in lab by a multi-faceted approach consisting of a series of blood count/red cell in

SUBMITTER: Bhusal A 

PROVIDER: S-EPMC9422200 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature