Setup of a Protocol of Molecular Diagnosis of β‐Thalassemia Mutations in Tunisia using Denaturing High‐Performance Liquid Chromatography (DHPLC)

Abstract

Compared to other genotyping techniques, the DHPLC method can meet the requirements of direct genotyping of known β-thalassemia mutations in Tunisia and to be applied as a powerful tool for the genetic screening of prenatal and postnatal individuals.

Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco

“…Two major differences were observed: First, all the β‐thalassemia major patients were homozygous or compound heterozygous for C39(C > T). Furthermore, it has been noticed that this variant, though the most common in all previous studies, showed a much higher frequency (71.15%) compared to those found in Morocco (15.56%–28.05%) (Agouti et al, 2007 ; Agouti, Badens, et al, 2008 ; Lemsaddek et al, 2003 , 2004 ), in Algeria (26%–43%) (Abdaoui et al, 2019 ; Bennani et al, 1994 ; Boudrahem‐Addour et al, 2009 ; Labie et al, 1990 ) and in Tunisia (49%–37.50%) (Chouk et al, 2004 ; Fattoum et al, 2004 ; Sahli et al, 2016 ). The second particularity in our result concern the three variants (FSC8(−AA), IVS‐I‐6(T > C), and IVS‐II‐745(C > G)) described in previous studies as three of the five most common variants in Morocco, are surprisingly absent in the Eastern region of Morocco and are rare in Algerian and Tunisian population.…”

“… Notes : a: (Lemsaddek et al, 2004 ), b: (Lemsaddek et al, 2003 ), c: (Agouti et al, 2007 ), d: (Agouti, Badens, et al, 2008 ), e: (Boudrahem‐Addour et al, 2009 ), f: (Abdaoui et al, 2019 ), g: (Fattoum et al, 2004 ), h: (Sahli et al, 2016 ). Bold indicates p value less than .05.…”

“…However, it was rare in Morocco and its frequency varies between 3% and 5%, which is similar to our study (3%). It has been suggested that IVS-I-110(G > A) was introduced over the past into Maghreb countries by the Ottoman occupation, which never reach Morocco and the presence of this variant in Notes: a: (Lemsaddek et al, 2004), b: (Lemsaddek et al, 2003), c: (Agouti et al, 2007), d: (Agouti, Badens, et al, 2008), e: (Boudrahem-Addour et al, 2009, f: (Abdaoui et al, 2019), g: (Fattoum et al, 2004), h: (Sahli et al, 2016). Bold indicates p value less than .05.…”

Genetics and genomic medicine in Tunisia

“…A high consanguinity rate among the affected was noted, and a total of 13 β‐thal mutations were identified. The mutation spectrum revealed a great molecular heterogeneity in Tunisia, with more than 28 different alleles reported to date (Chouk et al., ; Sahli et al., ).…”