Premium
Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation
Author(s) -
Waye John S.,
Eng Barry,
Patterson Margaret,
Wasi Parveen,
Chui David H. K.,
Francombe William H.,
Sher Graham D.,
Olivieri Nancy F.
Publication year - 1995
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.2830500104
Subject(s) - thalassemia , compound heterozygosity , mutation , medicine , genotype , concomitant , heterozygote advantage , phenotype , blood transfusion , pediatrics , genetics , biology , gene
Among individuals of Mediterranean or Middle Eastern descent, the IVS‐I‐6 (T→C) mutation is one of the most common causes of β‐thalassemia. In this report, we describe the clinical phenotypes of a group of β‐thalassemia patients who are compound heterozygotes for the relatively mild IVS‐I‐6 (T→C) β‐thalassemia mutation and more severe β + ‐ or β°‐thalassemia mutations. Although most of these patients are transfusion‐dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant α‐thalassemia and a mild transfusion‐independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.