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Phenotypic variability of Filipino β°‐thalassemia/HbE patients in Indonesia
Author(s) -
Setianingsih Iswari,
Williamson Robert,
Daud Dasril,
Harahap Alida,
Marzuki Sangkot,
Forrest Susan
Publication year - 1999
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/(sici)1096-8652(199909)62:1<7::aid-ajh2>3.0.co;2-s
Subject(s) - genotype , phenotype , genetics , haplotype , hemoglobinopathy , thalassemia , gene , biology , heterozygote advantage , globin , medicine , immunology , hemolytic anemia
Three Indonesian patients with identical genotypes, each compound heterozygotes for Filipino β°‐thalassemia/HbE, expressed different clinical severities. One patient has mild disease and is transfusion independent, while the other two are severely affected and transfusion dependent. The size of the Filipino β°‐globin gene deletion was confirmed to be 45 kb, resolving conflicting values given in the literature. Neither ameliorating genetic factors such as α‐globin gene deletions or the Xmn I restriction site polymorphism at position ‐158 upstream of the G γ‐globin gene, nor differences in β‐globin gene haplotype, explain the phenotypic variation. These observations have implications for the development of antenatal diagnosis in Indonesia, as at present it is not possible to give an accurate prediction of severity of phenotype for this common genotype. Am. J. Hematol. 62:7–12, 1999. © 1999 Wiley‐Liss, Inc.