Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype.
We report a relatively mild phenotype associated with two siblings who are compound heterozygotes for Hb S and a beta zero-thalassemia mutation due to a approximately 1.4-kb deletion of the 5' region of the beta-globin gene. Each is found to have unusually high levels of Hb A2 and Hb F, accounting for more than 20% of the total hemoglobin. These may interfere with intracellular Hb S polymerization, thus leading to a mild clinical course.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Chui
D H
DH
Eng
B
B
Cai
S P
SP
Coleman
M B
MB
Adams
J G
JG
Steinberg
M H
MH
D000328:Adult; D001483:Base Sequence; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000235:genetics; D006441:Hemoglobin A / Q000032:analysis; D006451:Hemoglobin, Sickle / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D015151:Immunoblotting; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
D006451:Hemoglobin, Sickle; D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin