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Mild β + (−87)‐thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis
Author(s) -
Gilman John G.,
Manca Laura,
Frogheri Laura,
Pistidda Paola,
Guiso Luciana,
Longinotti Maurizio,
Masala Bruno
Publication year - 1994
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830450316
Subject(s) - thalassemia , fetal hemoglobin , mutation , fetus , hemoglobin , hemoglobinopathy , biology , medicine , genetics , hemolytic anemia , pregnancy , gene
The β°‐thalassemia codon 39 nonsense mutation predominant in Sardinia is severe, and homozygotes are transfusion dependent. Two‐thirds of β° 39 alleles are linked to A γ T (haplotype II). Onefourth are linked to A γ I (haplotypes I and IX), as is the mild β + ‐thalassemia −87 C→G mutation (haplotype VIII). β + /β°‐Thalassemla VIII/II compound heterozygotes have Significantly higher A γ I : A γ T (23:7) than β°‐thalassemia I/II (24:20) or IX/II (16:17) cases. This suggests that the β + −87 mutation is associated with elevated γ expression in cis, which may contribute to the lack of transfusion‐dependence in β + /β° Cases. © 1994 Wiley‐Liss, Inc.