Five Rare β Globin Chain Hemoglobin Variants in India

Colah, Roshan; Nadkarni, Anita; Gorakshakar, Ajit; Sawant, Pratibha; Gorivale, Manju; Mehta, Pallavi; Sawant, M. K.; Ghosh, Kanjaksha

doi:10.1007/s12288-016-0676-9

Cited by 3 publications

(14 citation statements)

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“…Many of the uncommon β chain hemoglobin variants like Hb Agenogi, Hb British Columbia, Hb St Louis, Hb G Coushatta, Hb Pyrgos as well as α chain variants like Hb Jackson, and Hb Fontainebleau were identified by us for the first time among Indians. The clinical presentation in some of these cases has been reported by us earlier . Hb D Agri was a novel β chain variant with two amino acid substitutions in the same β globin chain described by us .…”

Section: Discussionmentioning

confidence: 61%

“…The clinical presentation in some of these cases has been reported by us earlier. 55,56 Hb D Agri was a novel β chain variant with two amino acid substitutions in the same β globin chain described by us. 57 Two additional cases of this variant were also encountered by us subsequently, again in the Agri community from Maharashtra.…”

Section: Many Of the Uncommon β Chain Hemoglobin Variants Likementioning

confidence: 97%

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The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

Nadkarni

Gorakshakar

Sawant

et al. 2018

Int J Lab Hematology

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Introduction The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years. Materials and Methods Screening for hemoglobinopathies was done using HPLC and cellulose acetate electrophoresis. Molecular characterization was done using Covalent Reverse Dot Blot Hybridization (CRDB), Amplification Refractory Mutation System (ARMS), GAP PCR and direct DNA sequencing. Results The study includes 31 075 individuals who were referred for diagnosis of hemoglobinopathies and prenatal diagnosis. Of these 14 423 individuals showed various hemoglobin abnormalities. Beta genotyping in 5615 individuals showed the presence of 49 β thalassemia mutations. 143 β thalassemia heterozygotes had normal or borderline HbA2 levels. We identified three δ gene mutations (HbA2 Pellendri, HbA2 St.George, HbA2 Saurashtra) in β thalassemia heterozygotes leading to normal HbA2 levels. The commonest defects among the raised Hb F determinants were Gγ(Αγδβ)0 Indian inversion and the HPFH‐3 Indian deletion. A total of 312 individuals showed the presence of α thalassemia, of which 12.0% had a single α gene deletion (−α/αα). HbH disease was identified in 29 cases with 10 different genotypes. Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype. Seven unusual α chain variants and eight uncommon β chain variants were identified. Conclusion The repertoire of molecular defects seen in the different globin genes will be valuable for management and control of these disorders both in India as well as in other countries where there is a huge influx of migrant populations from India.

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Section: Discussionmentioning

confidence: 61%

Section: Many Of the Uncommon β Chain Hemoglobin Variants Likementioning

confidence: 97%

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

Nadkarni

Gorakshakar

Sawant

et al. 2018

Int J Lab Hematology

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“…Lucknow and Hb Tianshui had falsely elevated HbA 2 levels and must be interpreted with caution. 24,31,32,35,49,52 Heterozygous HbD Iran, Hb G Coushata and Hb Lucknow were clinically silent. HbD Iran is a rare β-globin gene variant, more prevalent in North-West India, Pakistan and Iran.…”

Section: Delta Gene Variants and Double Heterozygous Variantsmentioning

confidence: 99%

“…29 The first case of heterozygous Hb Fannin (HBB:c.68A>C) also eluting in the HbA 2 window was picked up in a 30-year-old female from Maharashtra who was asymptomatic but was investigated as her husband had sickle cell trait. 32 The first case of Hb Limassol [β Codon 8 (G!C)] (HBB:c.27G>C) trait was reported from Odisha during antenatal screening. 33 Rocks showed a P3 peak of 44.1% (RT 1.56 min).…”

Section: Beta Globin Gene Variantsmentioning

confidence: 99%

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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“…It was first described in an American Coushatta Indian family (5). Hb G-Coushatta elute in the Hb A 2 window and could be mistaken for the common variants like Hb E and Hb D-Iran which also elute in the same window on HPLC (6). It was emphasized in the literature that Hb G-Coushatta causes an interference in HbA1c measurement by the ion-exchange HPLC method (7).…”

Section: Introductionmentioning

confidence: 99%

Heterozygote Hemoglobin G-Coushatta as the Cause of a Falsely Decreased Hemoglobin A1C in an Ion-Exchange HPLC Method

Kurtoğlu

Eren

Aslan

et al. 2017

Journal of Medical Biochemistry

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SummaryGlycated hemoglobin (HbA1c) is used for the assessment of glycemic control in patients with diabetes. The presence of genetic variants of hemoglobin can profoundly affect the accuracy of HbA1c measurement. Here, we report two cases of Hemoglobin G-Coushatta (HBB:c.68A>C) variant that interferes in the measurement of HbA1c by a cationexchange HPLC (CE-HPLC) method. HbA1c was measured by a CE-HPLC method in a Tosoh HLC-723 G7 instrument. The HbA1c levels were 2.9% and 4%. These results alerted us to a possible presence of hemoglobinopathy. In the hemoglobin variant analysis, HbA2 levels were detected as 78.3% and 40.7% by HPLC using the short program for the Biorad Variant II. HbA1c levels were measured by an immunoturbidimetric assay in a Siemens Dimen sion instrument. HbA1c levels were reported as 5.5% and 5.3%. DNA mutation analysis was performed to detect the abnormal hemoglobin variant. Presence of Hemoglobin G-Coushatta variant was detected in the patients. The Hb G-Coushatta variants have an impact on the determination of glycated hemoglobin levels using CE-HPLC resulting in a false low value. Therefore, it is necessary to use another measurement method.Keywords: Hb G-Coushatta (HBB:c.68A>C), HbA1c, cation-exchange HPLC Kratak sadr`ajGlikolizirani hemoglobin (HbA1c) koristi se za procenu glikemijske kontrole kod obolelih od dijabetesa. Prisustvo genetskih varijanti hemoglobina mo`e sna`no uticati na ta~nost merenja HbA1c. Ovde je prikazan izve{taj o dva slu ~aja gde je varijanta hemoglobina G-Coushatta (HBB:c.68A>C) uticala na merenje HbA1c metodom HPLC sa katjonskom izmenom (CE-HPLC). HbA1c meren je metodom CE-HPLC na instrumentu Tosoh HLC-723 G7. Nivoi HbA1c bili su 2,9% i 4%. Ovi rezultati ukazali su nam na potencijalno prisustvo hemoglobinopatije. Prilikom analiziranja varijante hemoglobina, otkriveni su nivoi HbA2 od 78,3% i 40,7% metodom HPLC uz kori{}enje kratkog programa za Biorad Variant II. Nivoi HbA1c mereni su pomo}u imunoturbidimetrijskog eseja na instrumentu Siemens Dimension. Dobijeni su nivoi HbA1c od 5,5% i 5,3%. Analiza mutacije DNK izvedena je kako bi se otkrile abnormalne varijante hemoglobina. Kod pacijenata je otkriveno prisustvo varijante hemoglobina G-Coushatta. Va rijante Hb G-Coushatta uti~u na odre|ivanje nivoa glikoliziranog hemoglobina pomo}u metode CE-HPLC, {to ima za posledicu la`no niske vrednosti. Dakle, neophodno je primeniti druge metode merenja.

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Five Rare β Globin Chain Hemoglobin Variants in India

Cited by 3 publications

References 10 publications

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

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

Heterozygote Hemoglobin G-Coushatta as the Cause of a Falsely Decreased Hemoglobin A1C in an Ion-Exchange HPLC Method

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