Hb Midnapore [β53(D4)Ala→Val; <i>HBB</i>: c.161C&gt;T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G&gt;C) (<i>HBB</i>: c.92+5G&gt;C) Found in a Bengali Indian Family

Panja, Amrita; Chowdhury, Prosanto; Basu, Anupam

doi:10.1080/03630269.2016.1243555

Cited by 4 publications

(5 citation statements)

References 6 publications

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“…The first group was α‐ or β‐thalassemia variants. The second group was the abnormal hemoglobin variants (Hbs), which may lead to clinical phenotypes, including common variants Hb S ( HBB :c.20A>T), Hb E ( HBB :c.79G>A), and rare Hb variants, such as Hb Midnapore ( HBB :c.161C>T; H. Liu et al, ; Panja, Chowdhury, & Basu, ; Ware, de Montalembert, Tshilolo, & Abboud, ). The benign Hb variants which account for the largest proportion were not included.…”

Section: Discussionmentioning

confidence: 99%

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

Zhang

Tang

et al. 2019

Human Mutation

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Hemoglobinopathies are the most common monogenic disorders worldwide. Substantial effort has been made to establish databases to record complete mutation spectra causing or modifying this group of diseases. We present a variant database which couples an online auxiliary diagnosis and at‐risk assessment system for hemoglobinopathies (DASH). The database was integrated into the Leiden Open Variation Database (LOVD), in which we included all reported variants focusing on a Chinese population by literature peer review‐curation and existing databases, such as HbVar and IthaGenes. In addition, comprehensive mutation data generated by high‐throughput sequencing of 2,087 hemoglobinopathy patients and 20,222 general individuals from southern China were also incorporated into the database. These sequencing data enabled us to observe disease‐causing and modifier variants responsible for hemoglobinopathies in bulk. Currently, 371 unique variants have been recorded; 265 of 371 were described as disease‐causing variants, whereas 106 were defined as modifier variants, including 34 functional variants identified by a quantitative trait association study of this high‐throughput sequencing data. Due to the availability of a comprehensive phenotype‐genotype data set, DASH has been established to automatically provide accurate suggestions on diagnosis and genetic counseling of hemoglobinopathies. LOVD‐DASH will inspire us to deal with clinical genotyping and molecular screening for other Mendelian disorders.

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Section: Discussionmentioning

confidence: 99%

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

Zhang

Tang

et al. 2019

Human Mutation

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“…A novel β chain variant Hb Midnapore [β Codon 53 (C→T)] (HBB:c.161C>T)along with β‐thalassemia was reported in a 3‐year‐old girl with a β‐thalassemia major phenotype who was on regular blood transfusions since the age of 11 months from West Bengal 54 . On capillary electrophoresis an unknown peak adjacent to HbA 0 was observed in the proband, her sister, mother and grandmother.…”

Section: Resultsmentioning

confidence: 99%

“…53 A novel β chain variant Hb Midnapore [β Codon 53 (C!T)] (HBB: c.161C>T)along with β-thalassemia was reported in a 3-year-old girl with a β-thalassemia major phenotype who was on regular blood transfusions since the age of 11 months from West Bengal. 54 On capillary electrophoresis an unknown peak adjacent to HbA 0 was observed in the proband, her sister, mother and grandmother. On DNA sequencing of the β-globin gene, the proband was homozygous for the IVS 1-5 (G>C) (HBB:c.92 + 5G>C) β-thalassemia mutation On family screening, his father showed a P3 peak of 37.4% (RT:…”

Section: Delta Gene Variants and Double Heterozygous Variantsmentioning

confidence: 97%

“…1.63 min) and both his mother and sisters were β-thalassemia carriers There are some α and β globin chain variants such as Hb J Rajappan, Hb Koya Dora, Hb Rampa, Hb Godavari, Hb Chandigarh, Hb D Agri, Hb Lucknow, Hb Vellore, Hb Midnapore and Hb Bijnor which were novel and originally identified among persons of Indian origin. 1,5,21,22,49,51,54,59 Majority of them were identified during screening and were clinically asymptomatic except Hb Koya Dora, Hb Lucknow, Hb Vellore, Hb Midnapore and Hb Bijnor, which in compound heterozygous conditions with other α and β globin gene mutations resulted in a clinically moderate to severe phenotype.…”

Section: Delta Gene Variants and Double Heterozygous Variantsmentioning

confidence: 99%

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Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

Thaker,

Mahajan,

Mukherjee

et al. 2024

Int J Lab Hematology

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The hemoglobin (Hb) variants are qualitative abnormalities due to production of structurally abnormal globin proteins. They are categorized based on the type of mutation present in the α1, α2, β, Gγ, Aγ and δ globin genes. So far, more than 1550 Hb variants are reported in the database. They could lead to Hb polymerization, Hb instability, altered oxygen affinity and decreased oxygen‐carrying capacity of Hb or have no clinical manifestations. In India, ethnic diversity, consanguinity, regional variations and migration result in the presence of different Hb variants. We have compiled all the variants of α, β and δ globin chains in heterozygous, homozygous and in compound heterozygous forms reported from India in the last 52 years. Of the 63 rare and novel hemoglobin variants reported from India, 22 were α‐globin chain variants, 37 were β‐globin chain variants and 4 were δ‐globin chain variants. Twelve novel Hb variants (Hb J Rajappan, Hb Koya Dora, Hb Rampa, Hb Godavari, Hb Chandigarh, Hb D Agri, Hb Lucknow, Hb Vellore, Hb Midnapore, Hb Bijnor, Hb A2Tianhe and Hb A2Saurashtra) were identified among persons of Indian origin. Majority of them were picked up on HPLC. Some of the variants like Hb Titusville, Hb Shimonoseki, Hb Chandigarh, Hb D Agri, Hb Yaizu and Hb Vellore eluted in the HbS window whereas variants like HbD Iran, Hb St. Louis, Hb G Coushata, HbM Saskatoon, Hb Lucknow, Hb Grange‐Blanche and Hb Tianshui showed falsely elevated HbA2. Hence, careful and systematic investigations are required to identify them.

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“…On the other hand, her grandmother, mother, and sister all possessed this novel mutation cis with the heterozygous HBB: c.92+5G>C. They are carriers but not thalassemic. This mutation produces the substitution β53 Ala→Val; HBB: c.161C>T, new structural hemoglobin (Hb) variant [19].…”

Section: Discussionmentioning

confidence: 99%

Mutational Studies of Gene HBB in β-Thalassemia Patients from Balochistan, Pakistan

Nawaz

Yousafzai

Luqman

et al. 2021

CTO

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Thalassemia is a hereditary blood disorder. It occurs due to two mutations in the HBB gene located on chromosome 11. This gene has 1606 base pairs and contains three exons. Moreover, HBB gene codes for β globin protein have been identified to posses 868 mutations, which comprise point mutation, insertion, deletion, and gene arrangement. In β thalassemia major, both alleles are mutated and no β chain is synthesized. In this study, three human families with thalassemia were selectedfrom different areas of Balochistan. For DNA extraction and estimation, 5 ml blood samples were extracted intravenously from the affected individuals, their normal siblings, and parents in 15ml falcon tubes containing 200μl EDTA. Primer sequences were designed on primer 3 for the mutational analysis of the HBB gene. Since the gene has a total of three exons and two introns, three primers, namely HBBX1, HBBX2 and HBBX3, were designed. These primers were used to amplify the HBB gene responsible for β thalassemia in all family samples. The amplified product was sequenced through an automated 3100 ABI Prism DNA sequence. The sequencing results were analyzed by the SaqMan software. This was done to determine if any genetic variable in the selected families showed mutations. In Family 1, 1 bp substitution mutation (c.9T>C) (p.his3his) and 1bp insertion (c.111T>G) (p.Ser10 val) in exon 1 of HBB gene were identified in thalassemia locus, while in in Family 2, 1bp substitution mutation (c.9T>C) (p.His3His) in exon 1 of HBB gene was identified in thalassemia locus. No mutation was observed in Family 03after sequencing.

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Hb Midnapore [β53(D4)Ala→Val; HBB: c.161C>T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G>C) (HBB: c.92+5G>C) Found in a Bengali Indian Family

Cited by 4 publications

References 6 publications

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

Mutational Studies of Gene HBB in β-Thalassemia Patients from Balochistan, Pakistan

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