期刊
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
卷 38, 期 1, 页码 17-26出版社
WILEY-BLACKWELL
DOI: 10.1111/ijlh.12433
关键词
Hemoglobinopathies; thalassemia intermedia; 3'UTR -globin gene mutation; screening program; genetic counseling
类别
IntroductionDuring an intensive screening program aimed at identifying the healthy carriers of thalassemia and the couples at risk of bearing an affected fetus, a rare single nucleotide variation (SNV), CAP + 1570 T > C (HBB:c*96T > C), located 12 nucleotides upstream of the polyadenylation signal in 3'UTR of the beta globin gene was identified. It was previously reported as a + thalassemia mutation and later as a plain polymorphism. MethodsGenotype identification of globin gene mutations was carried out using sequencing analysis, GAP-PCR, and MLPA methods. ResultsCAP + 1570 T > C (HBB:c*96T > C) was found in 39 heterozygotes, in one case in homozygous state and in thirteen cases of co-inheritance of this nucleotide substitution with other mutations in globin genes. Carriers of this mutation showed a silent' phenotype without appreciable microcytosis and hypochromia, so they cannot be differentiated from noncarrier individuals. Compound heterozygotes for this mutation and severe -thal mutations showed a variable phenotype ranging from -thal carrier to mild form of -thalassemia intermedia, revealing new aspects and allowing to better understand the clinical implications of this nucleotide substitution that can be classified as a silent -thalassemic defect. ConclusionData reported in this study indicate the need of investigating partner of -thalassemia carrier by complete sequencing analysis of -globin gene and of providing an appropriate genetic counseling for couples at risk undergoing prenatal diagnosis.
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