A Novel Approach to Rapid Determination of β^S‐Globin Haplotypes: Sequencing of the^Aγ‐IVS‐II Region

Abstract

beta-Globin gene cluster haplotypes were originally determined by restriction endonuclease mapping with Southern blots of polymorphic sites around the gene cluster. Over the years, haplotyping has been found to be useful, not only in population genetics but also in predicting the severity of hemoglobinopathies such as sickle cell disease. The sickle mutation occurs on five distinct haplotypes. The hitherto used methods are cumbersome and time-consuming, making haplotype determination a tedious procedure. We report our experience with a novel, rapid approach to haplotyping based on sequence polymorphisms in the Agamma-IVS-II region. We provide an algorithm that allows rapid assignment of the four African haplotypes carrying the sickle mutation.

γA Gene Repeats Polymorphism for the Analysis of Haplotypes of Abnormal Hemoglobins

“…[1][2][3] Previously it was reported that a unique repetitive sequence at the A gene IVS-II of the -S globin chain can discriminate African haplotypes of Hb S. These reports analyzed the haplotypes and gave the sequences as follows: Benin (TG)10CGCGCGCG(TG)7TC; Bantu (TG)10(CG)3(TG)9TC; Senegal (TG)13TC; Arab-India (TG)13TC and Cameroon (TG)12(CG)3(TG)7TC. 4,5 We aimed to sequence the A gene IVS-II region of the globin gene for hemoglobin S and other common hemoglobin variants in Turkish population.…”

Αξιολόγηση Της Αποτελεσματικότητας Και Της Ασφάλειας Της Χορήγησης Υδροξυουρίας Στη Λειτουργία Των Οργάνων Παιδιών Και Νεαρών Ενηλίκων Με Δρεπανοκυτταρική Νόσο

“…Ο συνδυασμός της α-θαλασσαιμίας και της ΔΝ έχει ως αποτέλεσμα τη χαμηλότερη ενδοκυττάρια συγκέντρωση της HbS και τον περιορισμό του πολυμερισμού της. Οι ασθενείς αυτοί παρουσιάζουν χαμηλότερα ποσοστά αιμόλυσης, υψηλότερα επίπεδα ολικής αιμοσφαιρίνης στο αίμα, χαμηλότερο μέσο όγκο ερυθρών αιμοσφαιρίων (MCV ) και ποσοστό ΔΕΚ[60,63]. Κλινικά τα ΑΕΕ, ο σπληνικός εγκλωβισμός, τα δερματικά έλκη και ο πριαπισμός περιορίζονται[64,65].…”