Background: Certain genetic mutations in β-thalassemia result in total absence of β-globin chain production, which is signed as β° thalassemia. β+, on the other hand, denoted genetic alterations that allow for some β-globin synthesis. Patients require frequent iron-chelating agents to manage iron overload and blood transfusions on regular basis for anemia. Severe anemia beside extra iron accumulation have negative consequences such as retarded growth, liver, heart, and endocrine diseases, as well as negative impact on bone density.
Aim of the work: To record the correlation of β-thalassemia genotype and bone density that obtained by Dexa scan compared to the normal references.
Methods: This is a cross section study subjected to record the influence of β-thalassemia genotype on the incidence of low bone density scored Dexa scan with Z-scores results compared to the normal references in β thalassemia cases, it involved 50 cases that were selected by simple random method, registered & followed up at the Pediatric Hematology Unit of Zagazig University Hospital from may 2022 to April 2023.
Results: The most frequent bone consequence was low bone mineral density, while osteoprosis and osteopenia accounted in 34% and 28% of cases, respectively. Lower z- scores compared to standards accounted for 62% of cases while 38% of cases had normal values. The β°β° genotype had a significant lower z- scores compared to those with β°β+ and β+β+ genotypes.
Conclusion: The present study had proved that decreased bone density was common in β-thalassemia major cases with a clear correlation between its genotype and clinical disease progression as well as its severity.