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Eight Cases of Hb Winnipeg [HBA2: c.226G>T (or HBA1)]: A Detailed Study

مؤلف البحث
Mohamed SM Khalil
تاريخ البحث
مجلة البحث
Hemoglobin
المشارك في البحث
الناشر
Taylor & Francis
موقع البحث
https://scholar.google.com/scholar?oi=bibs&cluster=5789408543151817715&btnI=1&hl=en
سنة البحث
2021
صفحات البحث
1-3
ملخص البحث

Hb Winnipeg [α75(EF4)Asp→Tyr (α2); HBA2: c.226G>T (or HBA1)] is a stable α-globin chain variant described in a few articles. The majority of reported cases in older articles were clustered in Canada. It can occur on both α1- and α2-globin genes and in different populations. In this study, eight cases of Hb Winnipeg were characterized by DNA sequencing during a wide-spectrum study of suspected α-globin gene variants collected in the United Kingdom. All cases detected peaked in the S window between 4.4 and 4.54 min. on high performance liquid chromatography (HPLC). The isoelectric focusing (IEF) averaged at 6.21 below Hb A. All the mutations were detected on the α1-globin gene except in one case. The ethnic origin of the majority of the patients was Canadian. Only one case was associated with the common polymorphism HBA2: c.-24C>G (or HBA1) [Cap +14 (C>G)] on both α-globin genes without any …