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

Autor: Thaker P; Department of Haematogenetics, Indian Council of Medical Research-National Institute of Immunohaematology (ICMR-NIIH), Mumbai, India., Mahajan N; Department of Haematogenetics, Indian Council of Medical Research-National Institute of Immunohaematology (ICMR-NIIH), Mumbai, India., Mukherjee MB; Department of Haematogenetics, Indian Council of Medical Research-National Institute of Immunohaematology (ICMR-NIIH), Mumbai, India., Colah RB; Department of Haematogenetics, Indian Council of Medical Research-National Institute of Immunohaematology (ICMR-NIIH), Mumbai, India.
Jazyk: angličtina
Zdroj: International journal of laboratory hematology [Int J Lab Hematol] 2024 Jun; Vol. 46 (3), pp. 434-450. Date of Electronic Publication: 2024 Mar 19.
DOI: 10.1111/ijlh.14267
Abstrakt: 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 A 2 Tianhe and Hb A 2 Saurashtra) 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 HbA 2 . Hence, careful and systematic investigations are required to identify them.
(© 2024 John Wiley & Sons Ltd.)
Databáze: MEDLINE
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