Co-Inheritance of α-thalassemia gene mutation in patients with sickle cell Disease: Impact on clinical and hematological variables.

Nigerian Journal of Clinical Practice
Z A Ali Al-BarazanchiMeaad Kadhum Hassan

Abstract

Sickle cell disease (SCD) is a monogenic, phenotypically highly variable disease with multisystem pathology. The phenotypic heterogeneity of SCD is attributed to environmental and genetic factors such as fetal hemoglobin and co-inheritance of α-thalassemia. To look for different types of α-thalassemia gene mutations among SCD patients and evaluate the influence of the co-inheritance of α-thalassemia on clinical and hematological variables. This cross-sectional analytical study included 765 SCD patients, and 150 patients (with low mean corpuscular volume (MCV), low mean corpuscular hemoglobin (MCH) and normal serum ferritin levels) were tested for α-thalassemia gene mutations. Multiplex PCR and reverse hybridization and sequencing for both α genes using the Vienna Lab Strip Assay PCR study were performed using conventional PCR technology. Out of 150 patients tested for α-thalassemia gene mutations, 141 patients were found to have one or more of the mutational types, representing 18.4% of all studied SCD patients. The most common mutations found were the -3.7 deletion (76.6%), followed by the -4.2 deletion (12.1%), mutant α2polyA-1 (Saudi type) (9.2%), and --MED double gene deletion (7.8%). Acute painful episodes did not differ s...Continue Reading

References

Jan 14, 2010·British Journal of Haematology·Kate RyanUNKNOWN British Committee for Standards in Haematology

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