Article
A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia.
Hemoglobin - 1 Feb 2001
Kim J Y, Park S S, Yang S H, Joo S I, Lee Y J, Ra E K, Shin S, Kim E C, Cho H I
Abstract excerpt
We describe the molecular and the hematological characteristics of a Korean family with a dominantly inherited beta-thalassemia. Carriers were characterized by moderate anemia, hypochromia, microcytosis, elevated Hb A2 and Hb F levels, and splenomegaly. DNA analysis revealed a CTG (Leu) to CCG (Pro) substitution at codon 114 of the beta-globin gene, that leads to a highly unstable hemoglobin variant, Hb...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
