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Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study
- Source :
- Scientific Reports, Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
- Publication Year :
- 2018
- Publisher :
- Nature Publishing Group UK, 2018.
-
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.
- Subjects :
- Adult
Male
medicine.medical_specialty
Blood transfusion
Iron Overload
Adolescent
Genotype
medicine.medical_treatment
Thalassemia
Iron
lcsh:Medicine
Hepatic Complication
Gastroenterology
Article
03 medical and health sciences
Young Adult
0302 clinical medicine
Internal medicine
medicine
Humans
Blood Transfusion
Allele
lcsh:Science
Child
Genotyping
Multidisciplinary
business.industry
lcsh:R
beta-Thalassemia
Beta thalassemia
Heart
Hepatitis C
medicine.disease
Magnetic Resonance Imaging
Cross-Sectional Studies
Liver
030220 oncology & carcinogenesis
lcsh:Q
Egypt
Female
business
030215 immunology
Subjects
Details
- Language :
- English
- ISSN :
- 20452322
- Volume :
- 8
- Database :
- OpenAIRE
- Journal :
- Scientific Reports
- Accession number :
- edsair.doi.dedup.....cc62e8ef00c552e71ef057830f35685f