Clinical to Molecular Screening Paradigm for<b>β</b>-Thalassemia Carriers

Abdel-Messih, Ibrahim Y; Youssef, Soha R.; Mokhtar, Galila M.; El-Mogy, M.I.; Mahmoud, Hanan M.; Ayoub, Mariz; Pessar, Shaimaa Abdelmalik

doi:10.3109/03630269.2015.1048808

Cited by 11 publications

(4 citation statements)

References 19 publications

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“…In Egypt, despite the high prevalence of β thalassemia carriers and the growing number of patients born each year, there is no national thalassemia prevention program [ 8 ]. Few studies were performed to assess the carrier rate of β thalassemia [ 9 , 10 ]. Selective screening approach within the families suffering from thalassemia is ideal and more feasible in highly prevalent regions with limited resources.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study

El-Shanshory

Sherief

Hassab

et al. 2021

J. Egypt. Public. Health. Assoc.

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Background Screening of β thalassemia among close relatives is more feasible in highly prevalent countries with limited resources. The purpose of this study is to determine the prevalence of β thalassemia carriers and iron deficiency anemia among relatives of β thalassemia patients in Mid Delta, Egypt. Methods This is a cross-sectional multi-center study conducted on 2118 relatives of patients with β thalassemia from different Egyptian governorates in the Mid Delta region. They were subjected to history taking with precise determination of geographic location, general examination, and the following investigations: complete blood counts, serum ferritin for those who showed microcytic hypochromic anemia, and high-performance liquid chromatography for those who were not diagnosed as iron deficiency anemia. Results The total prevalence of iron deficiency anemia among close relatives of confirmed β thalassemia patients in the Nile Delta region was 17.19%. The highest prevalence of iron deficiency anemia (45.05%) was reported in Al-Gharbia Governorate, followed by Al-Menoufia Governorate (21.67%), and the lowest prevalence was that of Al-Sharkia Governorate (4.91%). The differences were highly statistically significant (p < 0.001). β thalassemia carrier prevalence rate in the studied relatives was 35.84%, with the highest prevalence detected in Al-Sharkia Governorate (51.32%), followed by Kafr-Alsheikh and Al-Dakahilia Governorates (41.78%, 37.13%) respectively, while Al-Menoufia Governorate had the lowest prevalence rate (25.00%). These differences were also highly statistically significant (p < 0.001). Conclusion More than one-third of relatives of patients with β thalassemia are carriers of the disease, while 17.19% suffer from iron deficiency anemia. This study demonstrates the importance of tracing the high number of beta thalassemia carriers among relatives of patients with β thalassemia in Egypt.

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Section: Introductionmentioning

confidence: 99%

Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study

El-Shanshory

Sherief

Hassab

et al. 2021

J. Egypt. Public. Health. Assoc.

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“… 12 Two studies from Italy 26 and Turkey 41 used 3.8% as the cut-off while 3.4%, 3.6%, and 3.7% were used as the cut-off values by three separate studies from Italy, 56 Thailand, 36 and India, 28 respectively. Abdel-Messih et al 74 determined the effectiveness of the two most common cut-off values used in BTT screening. The results revealed the sensitivity (100.0% and 97.4%), specificity (70.0% and 72.7%), positive predictive value (75.0% and 92.6%), negative predictive value (100.0% and 88.8%), and accuracy (70.0% and 92.0%) in identifying β-thalassemia carriers at 3.5% and 4.0% cut-off values, respectively.…”

Section: Resultsmentioning

confidence: 99%

Section: Problems With Hba2 Cut-off Valuesmentioning

confidence: 99%

Unresolved laboratory issues of the heterozygous state of β-thalassemia: a literature review

Thilakarathne,

Jayaweera,

Premawardhena

2023

haematol

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Although considered a mild clinical condition, many laboratory issues of the carrier state of beta-thalassaemia remain unresolved. Accurate laboratory screening of beta-thalassaemia traits is crucial for preventing the birth of a beta-thalassaemia major child. Identification of carriers in the laboratory is affected by factors that influence red cell indices and HbA2 quantification. Silent mutations and co-inheriting genetic and non-genetic factors affect red cell indices which decreases the effectiveness of the conventional approach. Similarly, the type of beta mutation, co-inheriting genetic and non-genetic factors, and technical aspects, including the analytical method used and variations in the HbA2 cutoff values, affect the HbA2 results leading to further confusion. However, the combination of MCV, MCH and haemoglobin analysis increases the diagnostic accuracy. Diagnostic problems arising from non-genetic factors can be eliminated by carefully screening the patient’s clinical history. Still, issues due to certain genetic factors, such as Krüppel-like factor 1 gene mutations and alpha triplication remain unresolved. Each laboratory should determine the populationspecific reference ranges and be wary of machine-related variations of HbA2 levels, the prevalence of silent mutations in the community.

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“…However, the best cut off of HbA 2 according to our study was established at >3.6% for the beta thalassemia trait group. In a recent Egyptian study 2015, using HPLC, the Hb A 2 cut off value of >3.5% provided 100.0% sensitivity, 70.0% specificity, 75.0% positive predictive value (PPV), 100.0% negative predictive value (NPV) and accuracy of 70.0% to identify β-thal trait and at a cut-off of 4.0%, it provided 97.4% sensitivity, 72.7% specificity, 92.6% PPV, 88.8% NPV and a diagnostic accuracy of 92% (Abdel-Messih et al .,2015). Hb electrophoresis which measures various Hb bands is a well known established method of screening thalassaemia carriers.…”

Section: Discussionmentioning

confidence: 99%

Hemoglobin A2 Cut off Values in Egyptian Cohort as a marker of β -Thalassemia carriers.

Kablan

Hamshary

Nasr

et al. 2015

Journal of Bioscience and Applied Research

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Beta thalassemias (β-thalassemias) are a group of inherited blood disorders caused by reduced or absent synthesis of beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated 1 in 100.000 throughout the world. HbA2 determination plays a key role in screening programs for β-thalassemia since a small increase in this fraction is the most important marker of β-thalassemia heterozygous carriers. This study aims to detect the cut off value of Hb A2 in Egyptian individuals with β-thalassemia and microcytic hypochromic anemia, using automated HPLC. The study was carried out on 112 male and female cases. Their ages ranged from 2 years to 35 years. They were 28 normal cases, 20 cases diagnosed as microcytic hypochromic anemia, 52 cases as β-thalassemia trait and 12 cases as β-thalassemia intermedia. Informed consents were obtained from their care givers. CBC was done to all groups and HbA2 levels were measured using HPLC Bio-Rad D-10 dual program (β-thal short program) for identification of types of Hb and determining the cut off value of Hb A2. The Hb A2 cut off value in microcytic hypochromic anemia cases was >2.2%, in β-thalassemia intermedia cases was >3.2% and in β-thalassemia trait cases was >3.6% which showed the best cut off value, and hence the cut off value of Hb A2 could be used as a factor that plays a key role in screening programs for βthalassemia carriers.

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Clinical to Molecular Screening Paradigm forβ-Thalassemia Carriers

Cited by 11 publications

References 19 publications

Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study

Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study

Unresolved laboratory issues of the heterozygous state of β-thalassemia: a literature review

Hemoglobin A2 Cut off Values in Egyptian Cohort as a marker of β -Thalassemia carriers.

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