PubMed · 13629010
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J C WHITE, G H BEAVEN. 1959. Foetal Haemoglobin.. https://doi.org/10.1093/oxfordjournals.bmb.a069711
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Clinical manifestations of beta-thalassemia (beta-thal) intermedia phenotypes are influenced by the persistence of fetal hemoglobin (HbF) and by several polymorphisms located in the promoters of A- and beta-globin genes. The aim of this study was to evaluate the distribution of the -158Ggamma (C-->T) polymorphism and of the (AT)x(T)y configuration, as well as their eventual association with elevated levels of HbF in 188 beta-thal carriers and 229 wild-type individuals of Italian descent. The -158GgammaT and the (AT)9(T)5alleles were found to be associated with increased levels of HbF in beta-thal carriers, but not in wild-type subjects.
INTRODUCTION: Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition caused by the failure of normal switching from the fetal to the adult beta-globin gene, resulting in continuous production of fetal hemoglobin beyond the perinatal period. To date, eight deletions of variable size and position have been reported for HPFH. Southern hybridization and PCR are the most common methods used to detect each deletion. AIM: Our aim was to develop a multiplex-PCR assay to detect these deletions in a single tube in order to facilitate rapid and accurate molecular diagnosis. METHODS AND RESULTS: This report is the first application of multiplex-gap-PCR to detect all HPFH deletions simultaneously to expedite diagnosis. The deletion breakpoints were precisely identified for each deletion and primers were designed in the unique regions across the breakpoints of HPFH-1 (Black), HPFH-2 (Ghanaian), HPFH-3 (Asian Indian), HPFH-4 (Italian), HPFH-5 (Italian), HPFH-6 (Vietnamese), HPFH-7 (Kenyan), and SEA-HPFH (Southeast Asian). As many as 16 primers were used in a single amplification reaction by adjusting the relative primer concentrations. The multiplex-PCR approach was standardized on known positive control samples. We identified unique deletion-specific products for each deletion. The results were confirmed by sequence analysis. CONCLUSIONS: We conclude that our multiplex-gap PCR strategy provides the most rapid and accurate diagnosis for the deletions in the beta-globin gene cluster causing HPFH.
In this work data obtained on the VARIANT II hemoglobin analyzer using the Dual Kit elution system were compared to those obtained with the beta-Thalassemia Short Program. Since many laboratories still use an earlier model of the hemoglobin analyzer, the Variant 1, these data were also compared to those obtained with the latter instrument. Our study is divided into two parts. The first is an evaluation of the precision of the VARIANT II for determining the levels of hemoglobin (Hb)A2 and Hb F. This was carried out for normal subjects, thalassemic patients and patients with HbS. The second part concerns the potential of this instrument in the presumptive identification of Hb variants.