β-Globin Mutations in Egyptian Patients With β-Thalassemia

Elmezayen, Ammar D.; Kotb, S.M.; Sadek, Nayera; Abdalla, Ebtesam

doi:10.1309/lm1aykg6ve8mlphg

Cited by 25 publications

(15 citation statements)

References 29 publications

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“…Moreover, our results are consistent with that seen in different studies from Iran [24,25,27], including Iranian Kurds [28]. In contrast, IVS-I-6 was the most frequent β-thal mutation in Turkey [29], Lebanon [11], Egypt [30], Cyprus [22], and Italy [31].…”

Section: Discussionsupporting

confidence: 92%

Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq

Amin¹,

Jalal

Ali

et al. 2020

BioMed Research International

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Objective. To determine the molecular characterization and disease-associated complications of beta-thalassemia intermedia (β-TI) patients in Sulaymaniyah province, northeastern Iraq. Methods. A total of 159 β-TI patients from 114 families were enrolled. Detection of β-thalassemia mutations was done by reverse hybridization technique and direct gene sequencing. Also, the clinical and hematological data were collected through an electronic-based medical recording system using a designed comprehensive questionnaire. Results. Nineteen different β-globin gene mutations arranged in 37 various genotypes were determined. The most frequent were IVS-II-I (G>A) (47.2%), followed by IVS-I-6 (T>C) (23.3%) and IVS-I-110 (G>A) (5%). Among disease-related morbidities documented, bone disease amounted to 53% (facial deformity and osteoporosis), followed by endocrinopathies 17.6% (growth retardation and subclinical hypothyroidism), cholelithiasis 13.8%, pulmonary hypertension 11.3%, and abnormal liver function test 7.5%, whereas venous thrombosis, extramedullary hemopoiesis, and leg ulcer were less frequently observed. Age≥35 and female sex were risk factors for cholelithiasis, while age was an independent risk for hypothyroidism and female sex was associated with increased risk for osteoporosis. Mean serum ferritin of ≥1000 μg/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. Discussion and Conclusion. β+-thalassemia mutation had contributed to 41.25 of families with a less severe β-thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of β-TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.

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Section: Discussionsupporting

confidence: 92%

Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq

Amin¹,

Jalal

Ali

et al. 2020

BioMed Research International

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“…The high level of co-occurrence of anemia and stunting is highly concerning because each of them are of significant consequences and their co-occurrence is more threating to the children health. β-thalassemia is a common hematologic disorder in the Mediterranean basin, particularly in Egypt, it has been the most common type of genetic anemia with a carrier rate of about 10% [51]. Chronic anemia in general has direct and indirect effects on growth.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of short stature and malnutrition among Egyptian primary school children and their coexistence with Anemia

et al. 2020

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Background: Under nutrition and overweight typically occur during nutritional transition periods in developing countries including Egypt. Short stature and anemia are public health concern due to its strong link with malnutrition which is a preventable risk factor. Objectives: to estimate the prevalence of overweight, obesity, underweight and short stature and its concurrence with anemia, also to determine the etiological profile of short stature among primary school children in Egypt. Methods: A cross-sectional study was carried out on 33,150 Egyptian children aged 6-11 years old from January 2018 to January 2020, allocated in 59 primary schools from diverse geographical districts in Egypt. Complete anthropometric measurements were conducted and applied according to WHO growth charts. Hemoglobin level was measured. Systematic approach to detect the etiology of short stature was applied randomly to a sample of 380 stunted children. Results: The prevalence of underweight was 8.2%, while obesity and overweight represented 21.8% (9.6 and 12.2% respectively). Overall short stature constituted 17%. The main etiologies of short stature were familial (40.8%) and constitutional (24.2%). Anemia was diagnosed in 26% of children; while concurrent anemia and stunting was reported in 9.9%. Regarding anemia and anemia with stunting were more common among girls (30.0% (OR = 1.50, CI95%: 1.43-1.58) and 11.4% (OR = 1.39, CI95%:1.29-1.49) respectively), who were living in rural areas (33.4% (OR = 1.96, CI 95%:1.87-2.06) &12.7% (OR = 1.72, CI 95%:1.60-1.85)) and those who had low socioeconomic status)34.6% (OR = 2.54, CI 95%:2.29-2.82) & 17.2% (OR = 3.32, CI 95%:2.85-3.88() respectively. Anemia with stunting was significantly higher among children aged ≥9 years old representing 12% (OR = 1.40, CI 95%:1.30-1.51).

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“…These results were matched with many previous Egyptian studies. Though IVS 1–1[G > A], IVS 1–110[G > A] and IVS 1–6[T > C] were the commonest mutations in most Egyptian studies yet the order of frequency of these mutations is different in these studies 17,31–36 .…”

Section: Discussionmentioning

confidence: 99%

Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study

Hassan

Zakaria

Fathy

et al. 2018

Sci Rep

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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.

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β-Globin Mutations in Egyptian Patients With β-Thalassemia

Cited by 25 publications

References 29 publications

Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq

Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq

Prevalence of short stature and malnutrition among Egyptian primary school children and their coexistence with Anemia

Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study

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