Description of a Rare β-Globin Gene Mutation: -86 (C>G) (HBB: c.-136C>G) Observed in a Syrian Family

Hemoglobin
Faten MoassasHossam Murad

Abstract

We present the description of a β-thalassemia (β-thal) -86 (C>G) (HBB: c.-136C>G) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mother in a homozygous state, while it was in the father and in the amniotic fluid sample in a heterozygous state. This mutation is located at -86 within the proximal CACCC box in the promoter of the β-globin gene and is possibly linked with a phenotype of β+-thal. Polymerase chain reaction-restriction fragment length polymorphism (PCR/RFLP) analysis indicated that the -86 mutation was linked with haplotype I [+ - - - - + +]. We propose that Lebanon may be the origin of this mutation. To the best of our knowledge, this is the first report describing this mutation in As-Suwayda Province. These findings provide novel information on the region-specificity of this mutation in southwestern Syria.

References

Feb 1, 1992·British Journal of Haematology·A MeloniA Vitucci
Mar 11, 2004·Hemoglobin·Wafaâ LemsaddekLeonor Osório-Almeida
Sep 9, 2004·British Journal of Haematology·Paolo MoiMaria Cristina Rosatelli
Nov 9, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·Gulen AttilaKiymet Aksoy
Dec 21, 2004·American Journal of Hematology·Alessandra FalchiLaurent Varesi
Oct 29, 2005·American Journal of Human Biology : the Official Journal of the Human Biology Council·I PirasC M Calò
Nov 22, 2007·Human Biology·Helios MartínezDinorah Castro De Guerra
May 25, 2010·Orphanet Journal of Rare Diseases·Renzo Galanello, Raffaella Origa
Jan 17, 2013·Blood Cells, Molecules & Diseases·Mahmoud M SirdahChristian Timmann
Oct 19, 2013·Nucleic Acids Research·Belinda GiardineGeorge P Patrinos
Dec 5, 2014·Blood Cells, Molecules & Diseases·Supawadee YamsriSupan Fucharoen
Nov 17, 2016·Scientific Reports·Scarlett MarshallEran Elhaik
Apr 8, 2017·Journal of Clinical Pathology·Paloma RoperoRafael Martínez
Apr 12, 2018·Hematology·Hossam MuradRami A Jarjour

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.