A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease.
Joly
Philippe
P
Lacan
Philippe
P
Labalme
Audrey
A
Bonhomme
Elodie
E
Sanlaville
Damien
D
Francina
Alain
A
D000293:Adolescent; D005260:Female; D017353:Gene Deletion; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D012600:Scoliosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D016615:Telomere / Q000235:genetics*; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D006447:Hemoglobin H