Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease.
Sollaino
Maria Carla
MC
Paglietti
Maria Elisabetta
ME
Loi
Daniela
D
Congiu
Rita
R
Podda
Rosanna
R
Galanello
Renzo
R
D002648:Child; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D050436:Regulatory Elements, Transcriptional / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
D055542:alpha-Globins