High Hb A2 beta-thalassemia due to a 468 bp deletion in a patient with Hb S/beta-thalassemia.
We describe a case of Hb S/beta-thalassemia (thal) involving a 468 bp deletion that removes the beta-globin gene promoter but leaves the coding regions intact. This is the second report of this deletion, and our family study establishes that this deletion causes beta0-thal with unusually high levels of Hb A2 and Hb F. As with other genotypes involving deletions of the 5' region of the beta-globin gene, our patient had a mild form of Hb S/beta-thal.
Patterson
Margie
M
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Walker
Lynda
L
Eng
Barry
B
Waye
John S
JS
D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006443:Hemoglobin A2 / Q000032:analysis*; D006451:Hemoglobin, Sickle; D006801:Humans; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000235:genetics*
D006451:Hemoglobin, Sickle; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin