A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3‐F4 ) Ala87_Thr88delinsSer_Gln (HBB :c.255_264 delinsTTTTTCTCAG )) in a pregnant woman of African ancestry
International Journal of Laboratory Hematology(2023)
摘要
Data sharing not applicable to this article as no datasets were generated or analysed during the current study. Supplementary Figure 1 Evidence of the absence of a Lepore recombination event. (a) MLPA analysis of the mother: Lepore events are characterized by a deletion removing # 7 kb of sequence from delta gene to beta gene (red box in panel B). No deletion could be evidenced in the maternal sample. (b) GAP PCR of the Lepore gene. Primers are set so that a fragment of # 850 bp is obtained if a Lepore is present. The wild type would give a #8.2 Kb PCR fragment, which could not be generated with the PCR setting. The maternal sample failed to give the expected Lepore fragment. Supplementary Figure 2. eCap analysis of the patient's Hb during and after pregnancy. (a) Analysis done at 30 sa: variant peak quantified at 8.4%. (b) Analysis done at 36sa, during the gravidic HTA: variant peak quantified at 6.7%. (c) Analysis done 4 month after delivery: variant peak quantified at 8.5% Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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关键词
hb wanjiang,<scp>hbb</scp>c255_264,pregnant woman,ala87_thr88delinsser_gln
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