Hb Rush (<i>HBB</i>: c.304G&gt;C): A Rare Variant Hemoglobin Mimicking the Hb S (<i>HBB</i>: c.20A&gt;T) Variant on High Performance Liquid Chromatography

Mashon, Ranjeet Singh; Das, Reena; Dhawan, Radhika; Kakkar, Naveen; Dhar, Tapasya

doi:10.1080/03630269.2020.1733009

Cited by 1 publication

(3 citation statements)

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“…On HPLC she showed a peak in the Hb S window, but the sickling test was negative and the HbS mutation was absent. On DNA sequencing, an amino acid change from Glu to Gln at Codon 101 of the β‐globin gene was observed 39 . Hb Olympia [β Codon 20 (G→A)] (HBB:c.61G>A) was identified in a 29‐year‐old male from Gujarat having erythrocytosis 40 .…”

Section: Resultsmentioning

confidence: 99%

“…Some rare variants co‐elute with common ones like HbE and HbS. Hb Titusville, Hb Shimonoseki, Hb Chandigarh, Hb D Agri, Hb Yaizu, Hb Rush and Hb Vellore eluted in the HbS window on HPLC 18,20–22,38,39,51 . A negative sickling/solubility test is a useful pointer to the possibility of another variant rather than HbS and should always be done.…”

Section: Discussionmentioning

confidence: 99%

“…18,[20][21][22]38,39,51 A negative sickling/ solubility test is a useful pointer to the possibility of another variant rather than HbS and should always be done. Hb Titusville is a low oxygen affinity hemoglobin and was first identified in a female child of African American origin.…”

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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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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%