High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region

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

High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region

Blood. 1991 Mar 1;77(5):1100-3.

Authors

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

Affiliation

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

PMID: 1995096

Abstract

We identify and characterize a novel beta 0-thalassemia mutation that is associated with an unusually high level of hemoglobin (Hb) A2 in the heterozygote. This newly discovered mutation is caused by a 532-basepair deletion that extends from positions -454 to + 78 relative to the mRNA cap site of the beta-globin gene. The propositi are 9-month-old fraternal twins. One of the twins is a compound heterozygote for the deletion and Hb S, the other is a compound heterozygote for the deletion and Hb C.

Publication types

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

MeSH terms

Base Sequence
Blotting, Southern
Chromosome Deletion
Globins / genetics*
Hemoglobin A2 / genetics
Humans
Molecular Sequence Data
Oligonucleotides / chemistry
Polymerase Chain Reaction
Thalassemia / genetics*

Substances

Oligonucleotides
Globins
Hemoglobin A2