Abstract
In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the β-gene. β° refers to the complete absence of production of β-globin on the affected allele. β+ refers to alleles with some residual production of β-globin. The homozygous state results in severe anemia that necessitates regular blood transfusion. On the other hand, frequent blood transfusion can lead to iron overload resulting in progressive dysfunction of the heart, Liver as well as multiple endocrinopathies. We studied the impact of genotype on the development of disease complications in patients with β thalassemia. A Cross sectional study was carried on 73 patients with beta thalassemia. Genotyping was determined by DNA sequencing technique. Routine investigations as well as MRI liver and heart were performed to assess iron overload. We found that β+β+ was the most common genotype in our patients followed by β°β° and β°β+. Mean Liver iron content (LIC) was significantly higher in β°β° compared to β°β+ and β+β+ genotypes and mean cardiac T2* was significantly lower in β°β° compared to β°β+ and β+β+ genotypes. Hepatic complications, hepatitis C, cardiac complications and some endocrinopathies were significantly higher in patients with β°β° genotype compared to other genotypes which explain the role of the underlying genetic defect in thalassemia patients in development of disease complications.
Highlights
The clinical severity of β-thalassemia varies widely ranging from asymptomatic to severe or even fatal entities which reflects the degree of imbalance between α- and non-α-globin chains[2]
The clinical management of beta thalassemia has changed dramatically, yet there is a wide spectrum of complications which arise mainly from obligatory lifelong blood transfusion and the subsequent iron overload[8]
Cardiac failure and rhythm disturbances remain the main cause of death among young adults with beta thalassemia major[10]
Summary
The clinical severity of β-thalassemia varies widely ranging from asymptomatic to severe or even fatal entities which reflects the degree of imbalance between α- and non-α-globin chains[2]. Homozygous β-thalassemia is characterized by severe anemia and transfusion dependency[4]. Excess iron deposition in many tissues as a result of chronic transfusion, increased gastrointestinal iron absorption as a consequence of ineffective erythropoiesis, in addition to the hepcidin–ferroportin axis malfunctions results in organ damage, significant morbidity as well as significant mortality in thalassemia patients especially if untreated[5]. Many previous data suggested that the clinical severity of the disease and development of such complications can be influenced by the type of β-thalassemia mutation and genotype[7]
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