Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype

J S Waye; D H Chui; B Eng; S P Cai; M B Coleman; J G Adams 3rd; M H Steinberg

doi:10.1002/ajh.2830380207

Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype

Am J Hematol. 1991 Oct;38(2):108-12. doi: 10.1002/ajh.2830380207.

Authors

J S Waye¹, D H Chui, B Eng, S P Cai, M B Coleman, J G Adams 3rd, M H Steinberg

Affiliation

¹ Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.

PMID: 1719807
DOI: 10.1002/ajh.2830380207

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

Adult
Base Sequence
Chromosome Deletion
Chromosome Mapping
Female
Fetal Hemoglobin / analysis
Globins / genetics
Hemoglobin A / analysis
Hemoglobin, Sickle / analysis
Heterozygote
Humans
Immunoblotting
Molecular Sequence Data
Mutation
Phenotype
Polymerase Chain Reaction
Thalassemia / genetics*

Substances

Hemoglobin, Sickle
Globins
Hemoglobin A
Fetal Hemoglobin