Characterization of the Molecular Spectrum of -Thalassemia Mutations in the Western Province of Saudi Arabia and Recommendation for Premarital Screening
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- Category: Vol. 90, December 2022
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Characterization of the Molecular Spectrum of -Thalassemia Mutations in the Western Province of Saudi Arabia and Recommendation for Premarital Screening, SAMY ATTALLAH, ABDULLA ALHARBY, MARWA AL HADDAD, WALAA AL QARNI, DUAA FILFILAN, AHMED ALHARBY, ABDEL REHEEM BASONDOH, MOHAMED ALASMARY, HOSSAM MADANY, IBRAHIM ALHARBI, ALIAABOTALEB and EMAN ALHAZMY
Abstract
Background: a-thalassemia trait is frequently encountered in Saudi Arabia with a large diversity and geographical variability in the underlying genotypes.
Aim of Study: To characterize the molecular spectrum of a-thalassemia in the western province of Saudi Arabia in some Saudi patients suspected of a thalassemia carrier or diagnosed with Hb H disease to determine if there is the significance of premarital genetic testing for a thalassemia in a couple suspected with a thalassemia trait.
Patients and Methods: This study included 39 patients, 34 patients with suspected a thalassemia trait and 5 patients diagnosed with Hb H disease.
Results: Thirteen patients 33.3% are heterozygous for + thalassemia having the genotype --3.7/ and 14 patients 35.9% are homozygotes for 0 having the genotype -3.7/-a3.7 and, one patient with --MED /aa, one with --SEA /aa, and one PA-1 / and the 5 patients with HGB H disease 12.8%, one patient has a genotype of --SEA/-3.7, one with - -MED/-3.7 Mediterranean thalassemia ( --MED) with 3.7 kb heterozygous deletion, and 2 patients with genotype aPA-1
/aPA-1
Words: a thalassemia – Hb H disease – Saudi Arabia.
mozygous mutation Poly A(A->G). There was one case with
negative molecular screening for α-thalassemia. Conclusion: The -α3.7 was the most common mutation among patients with α-thalassemia forming 78.9% ofall deletions. The premarital genetic diagnosis of α-thalassemia is not recommended as -α3.7 deletion is not risk for hydrops fetalis but should be considered in families with a history of HGB H disease or hydrops fetalis.