A Search for Beta Thalassemia Trait in India

Parthasarathy,

doi:10.5505/tjh.2012.21703

Cited by 7 publications

(4 citation statements)

References 8 publications

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“…Normal RDW among βTT was also reported by other studies [ 18 , 35 , 36 ]. So, microcytosis accompanied by a high RBC count and normal RDW is highly suggestive of BTT [ 36 ].…”

Section: Discussionsupporting

confidence: 85%

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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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“…Normal RDW among βTT was also reported by other studies [ 18 , 35 , 36 ]. So, microcytosis accompanied by a high RBC count and normal RDW is highly suggestive of BTT [ 36 ].…”

Section: Discussionsupporting

confidence: 85%

“…Normal RDW among βTT was also reported by other studies [ 18 , 35 , 36 ]. So, microcytosis accompanied by a high RBC count and normal RDW is highly suggestive of BTT [ 36 ]. A definitive differential diagnosis between βTT and IDA is based on HbA2 electrophoresis, serum iron, and ferritin levels [ 37 ].…”

Section: Discussionsupporting

confidence: 85%

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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“…[54] Though, Parthasarathy, (2012) observed that the cut-off values of MCV below 76 fl was suggested to be associated with a high probability of β-Thalassemia trait in Indian population. [55]…”

Section: Discussionmentioning

confidence: 99%

Correlation of Cytogenetic, Molecular and Clinical Findings in Thalassemia Patients at a Tertiary Care Hospital

Nigam¹,

Verma²,

Agrawal³

et al. 2019

jemds

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BACKGROUND Thalassemia syndromes are most common monogenic disorders which can be inherited by children from their parents. This study aimed to evaluate the correlation of cytogenetic (1p36 deletion), molecular (common mutations) and clinical findings such as haematologic parameters, age at presentation, nutritional status and transfusion requirements with β-thalassemia patients. METHODS In total, 140 β-thalassemia patients were clinically classified into β-thalassemia major (TM) or intermedia (TI). The cytogenetic analysis for 1p36 deletion was carried out in suspected patients with phenotypic dysmorphic, developmental delay and mental retardation by karyotyping. ARMS-PCR was performed to identify the common mutations in β-thalassemia patients. All data were analyzed by SPSS software. RESULTS Karyotyping was performed in 10 β-Thalassemia patients for 1p36 del. based on their physical appearance and intelligence; but, none of them were found to be positive for 1p36 del. Total 101 (72.14%) patients were of thalassemia major and 39 (27.86%) were of thalassemia intermedia. Among the thalassemia major patients, 71 (70.30%) have common mutation. In our study the IVS I-5 G→C mutation was most common 62 (87.32%) in thalassemia major patients. The clinical parameters such as Hb (gm/dl), HbA2 (%), HbF (%), MCV (fL), MCH (pg) and MCHC (gm/dl) were significantly associated with β-Thalassemia major. CONCLUSIONS In β-Thalassemia patients, 1p36 deletion was not observed. In our study, the IVS I-5 G→C mutation was the most common [62(87.32%)]. There were significant differences on the age of first transfusion, Hb (gm/dl), HbA2 (%), HbF (%), MCV (fL), MCH (pg) and MCHC (gm/dl) in between β-Thalassemia major and intermedia.

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“…When the condition is not met, there will be a complete or partial defect in one or both allelic globin genes, such as β-thalassemia [17]. β-Thalassemia is a worldwide-distributed inherited hemoglobin disorder resulting in severe, chronic anemia [18,19]. It is a heterozygous condition in which only a single β-globin gene is affected and results in the absence or reduced β-globin chain synthesis.…”

Section: β-Thalassemiamentioning

confidence: 99%