Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)0-thalassemia in eastern India

Dehury, Snehadhini; Purohit, Prasanta; Meher, Satyabrata; Das, Kunal; Patel, Siris

doi:10.1016/j.bjhh.2014.12.002

Cited by 5 publications

(5 citation statements)

References 11 publications

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“…C) mutation with (db) 0 thalassemia influences the upregulation of c gene. Similar findings are reported by Dehury et al [6] and Pandey et al [7]. However, in case of compound heterozygotes reported by Pandey et al [7] both Hb A2 and HB F were significantly lower than in the present case.…”

supporting

confidence: 91%

“…However, in case of compound heterozygotes reported by Pandey et al [7] both Hb A2 and HB F were significantly lower than in the present case. Our report is comparable to the report of Dehury et al [6]. Further among the two siblings one showed facial bone deformities and abdominal swelling not visible in the other.…”

supporting

confidence: 91%

“…The increase in Hb F levels as result of same mutation varies even within the members of the same family [2]. Asian Indian inversion deletion Gc(Acdb) 0 has been described in various parts of India [5,6]. The patient in current study and the other family members excluding the mother, showed elevated HbF due to the presence of the Asian-Indian form of inversion-deletion (db) 0 thalassemia, with variable HbF levels.…”

mentioning

confidence: 53%

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A Compound Heterozygous Asian Indian Inversion Deletion Gγ(Aγδβ)0 with β-Thalassemia in Central India: A Case Report

Lad

Ghanghoria

Yadav

et al. 2017

Indian J Hematol Blood Transfus

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supporting

confidence: 91%

supporting

confidence: 91%

mentioning

confidence: 53%

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A Compound Heterozygous Asian Indian Inversion Deletion Gγ(Aγδβ)0 with β-Thalassemia in Central India: A Case Report

Lad

Ghanghoria

Yadav

et al. 2017

Indian J Hematol Blood Transfus

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“…Usually in β + β 0 type βthalassemia, the Hb pattern shows HbA between 10 and 30%, HbF of 70-90% and HbA2 of 2-5%. [46] Murali et al (2004) have checked the prevalence of different mutations in different districts of Andhra Pradesh and Karnataka. [47] They can observe that IVS1+5G>T mutation is the most popular around Andhra Pradesh and Karnataka.…”

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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“…In the present case, the compound heterozygosity has lead to β + β 0 type causing β-thalassemia major. Usually in β + β 0 type β-thalassemia, the Hb pattern shows HbA between 10 and 30%, HbF of 70–90% and HbA2 of 2–5% [12] .…”

Section: Discussionmentioning

confidence: 99%

Compound heterozygous β+ β0 mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study

Chaudhary¹,

Dhawan²,

Bagali³

et al. 2016

Molecular Genetics and Metabolism Reports

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β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions). In this case study, we have reported a rare occurrence of compound heterozygosity of two different variants, namely, HBBc.92G > C and HBBc.92 + 5G > C in maternal amniotic fluid sample. Prenatal β-thalassemia mutation detection in fetal DNA was carried out using nucleotide sequencing method. After analysis, the father was found to be heterozygous for HBBc.92G > C (Codon 30 (G > C)) mutation which is β0 type and the mother was heterozygous for HBBc.92 + 5G > C (IVS I-5 (G > C)) mutation which is β+ type. When amniotic fluid sample was analyzed for β-globin gene (HBB), we found the occurrence of heterozygous allelic pattern for aforesaid mutations. This compound heterozygous state of fetus sample was considered as β+/β0 category of β thalassemia which was clinically and genotypically interpreted as β-thalassemia major. Regular blood transfusions are required for the survival of thalassemia major patients hence prenatal diagnosis is imperative for timely patient management. Prenatal diagnosis helps the parents to know the thalassemic status of the fetus and enables an early decision on the pregnancy. In the present study, we have identified compound heterozygosity for β-thalassemia in the fetus which portrays the importance of prenatal screening.

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Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)0-thalassemia in eastern India

Cited by 5 publications

References 11 publications

A Compound Heterozygous Asian Indian Inversion Deletion Gγ(Aγδβ)0 with β-Thalassemia in Central India: A Case Report

A Compound Heterozygous Asian Indian Inversion Deletion Gγ(Aγδβ)0 with β-Thalassemia in Central India: A Case Report

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

Compound heterozygous β+ β0 mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study

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