Hb M-Iwate in an Indian family

Kumar, Ganesh; Sharma, Prashant; Chhabra, Sanjeev; Hira, Jasbir Kaur; Trehan, Amita; Das, Reena

doi:10.1016/j.cca.2015.04.031

Cited by 8 publications

(8 citation statements)

References 13 publications

(11 reference statements)

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“…Four HbM variants (Hb M Boston, Hb M Iwate, Hb M Hyde Park and Hb M Saskatoon) were also identified among Indians 15,16,26,35 . They usually display an autosomal dominant inheritance.…”

Section: Discussionmentioning

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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“…Four HbM variants (Hb M Boston, Hb M Iwate, Hb M Hyde Park and Hb M Saskatoon) were also identified among Indians 15,16,26,35 . They usually display an autosomal dominant inheritance.…”

Section: Discussionmentioning

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

View full text Add to dashboard Cite

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“…But, in heterozygote's variety, there is partial defect in the enzyme; methemoglobinemia may develop when challenged with oxidative drugs [ 6 ]. There is another variant of this disorder, which is rare, HbM-Iwate, formed due to the point mutation of alpha globin gene [ 7 ]. Hereditary methemoglobinemia is an autosomal recessive disorder and hence is rare.…”

Section: Discussionmentioning

confidence: 99%

Rare Case of Methemoglobinemia Complicating Pregnancy

Verma

Sachdeva

Gandhi

2016

Case Reports in Obstetrics and Gynecology

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A patient at 38 weeks of gestation when taken for emergency cesarean section had her oxygen saturation of 66 to 70% (by saturation probe on monitor) in operation theatre. She was otherwise asymptomatic but her oxygen saturation was persistently low on the monitors. Her arterial blood gas analysis showed all parameters to be normal. Her electrocardiography was normal. Her surgery was imperative but due to her reduced oxygen saturation she became a high-risk case. In presence of senior consultants of anesthesia and gynecology and under high-risk consent she had an uneventful cesarean delivery. Physician and cardiologist opinions were sought thereafter. The outcomes and the results of our efforts to find the etiology of her reduced saturation on monitors despite being clinically asymptomatic lead to the disclosure of this rare hemoglobinopathy. Mother and baby had uneventful course after delivery and were discharged well.

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“…In India, only few cases of Hb-M have been reported, which includes Hb-M Iwate, Hb-M Ratnagiri, and Hb-M Boston [ 10 - 12 ]. However, only a single case of hereditary Hb-M Hyde Park has been reported in India to date.…”

Section: To the Editormentioning

confidence: 99%