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. 2012 Sep-Oct;32(5):487-91.
doi: 10.5144/0256-4947.2012.487.

Prevalence of Xmnl Gγ polymorphism in Egyptian patients with β-thalassemia major

Azza A G Tantawy  1 , Nevine G Andrawes, Amany Ismaeil, Solaf A Kamel, Wessam Emam
Affiliations

Prevalence of Xmnl Gγ polymorphism in Egyptian patients with β-thalassemia major

Azza A G Tantawy et al. Ann Saudi Med. 2012 Sep-Oct.

Abstract

Background and objectives: β-thalassemia results from a deficiency of β-globin chains leading to an excess in a globin chains resulting in hypochromic microcytic red cells, ineffective erythropoiesis and hemolytic anemia. It is a result of a decline of HbF synthesis during the first year of life. F-cell levels are influenced by a sequence variant (C->T) at position -158 upstream of the -globin gene, so the frequency of the Xmnl Gγ polymorphism in Egyptian patients with b-thalassemia major needed evaluation to decide on the value of HbF augmentation drugs in treating Egyptian b-thalessemia.

Design and setting: A cross-sectional study including 30 β-thalassemia major patients diagnosed and attending the Pediatric Hematology Unit, Children's University Hospital, Ain Shams University, Cairo, Egypt, in the period from October 2008 to October 2009.

Patients and methods: The 17 males and 13 females underwent a medical history and physical examination. Tests included a complete blood count, hemoglobin electrophoresis, serum ferritin, and detection of Xmnl Gγ polymorphism by PCR.

Results: The mean (SD) age was [2]10.2 (6.9) years. The most frequent genotype observed was homozygosity for the absence of the site Xmnl (-/-) in 96% of cases. Heterozygosity (+/-) genotype was detected in 4% of cases, while homozygosity for the site XmnI (+/+) genotype was absent. Genotype was not related to age at first transfusion, fetal hemoglobin level or transfusion frequency.

Conclusion: Despite the small sample size, the study demonstrated that Egyptian β-thalessemia patients have low frequency of positivity for the Xmnl polymorphism whether in heterozygous (+/-) or homozygous (+/+) state.

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Figures

Figure 1
Figure 1
Electrophoresis of amplified DNA after digestion with XmnI for the detection of Gγ XmnI polymorphism genotypes. Lane 1: 100 bp DNA ladder. Lane2 and 4–0: 650 bp fragment from patients with XmnI (−/−) genotype. Lane 3: 650 bp, 450 bp and 200 bp fragment from a patient heterozygous for the XmnI (+/−) genotype.
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