|Year : 2019 | Volume
| Issue : 3 | Page : 193-194
A case of hemoglobin J-Meerut detected from Gujarat, India
Anand K.G.S Wahengbam, Khushbu Kumari, Kallur N Saraswathy, Benrithung Murry PhD
Department of Anthropology, University of Delhi, Delhi, India
|Date of Submission||15-Apr-2019|
|Date of Acceptance||21-Aug-2019|
|Date of Web Publication||05-Dec-2019|
Department of Anthropology, University of Delhi, Delhi 110007
Source of Support: None, Conflict of Interest: None
A 19-year-old man who participated in the thalassemia screening program was found to have a normal hematological parameter with a slightly elevated mean corpuscular hemoglobin concentration (MCHC) and RDW (CV). The high-performance liquid chromatography also shows normal hemoglobin (Hb) F and Hb A2, but falls within the α-thalassemia trait and became suspected in the presence of a Hb variant. Hb electrophoresis was performed and molecular characterization was done with Sanger sequencing, and then identified the variant as Hb J-Meerut. Proper identification of such variant Hb could avoid mismanagement of diabetic patients as it is earlier reported to show a falsely lower level of HbA1c than expected.
Keywords: hemoglobin J-Meerut, hemoglobinopathies, sequencing, variant hemoglobin, α-globin
|How to cite this article:|
Wahengbam AK, Kumari K, Saraswathy KN, Murry B. A case of hemoglobin J-Meerut detected from Gujarat, India. Egypt J Haematol 2019;44:193-4
|How to cite this URL:|
Wahengbam AK, Kumari K, Saraswathy KN, Murry B. A case of hemoglobin J-Meerut detected from Gujarat, India. Egypt J Haematol [serial online] 2019 [cited 2020 Feb 22];44:193-4. Available from: http://www.ehj.eg.net/text.asp?2019/44/3/193/272368
| Introduction|| |
In recent times, abnormal hemoglobins (Hb) are generally discovered during a systematic study performed within programs for prevention of Hb disorders which are mostly picked up as abnormal peaks on high-performance liquid chromatography (HPLC) or electrophoresis ,. Thalassemias and Hb variants are common in the East Asian populations of India, Thailand, Taiwan, China, and Malaysia . Uncommon variant Hb is also reported among high-risk populations residing in Jamnagar district, Gujarat . Hb variants arise due to mutations in the genes encoding for the α-chain and β-chain that result in amino acid changes . Interaction between two different Hb variants can result in more severe problems . The highest frequency of β-thalassemia is reported among Halai Lohanas (17.20%) and of comparably low frequency among Sindhi Lohanas (5.66%) . Screening and identification of the Hb variants are important due to the fact that certain populations have a high prevalence frequency of hemoglobinopathies. We report here a Hb variant, Hb J-Meerut detected in a man from Gujarat, India.
| Case report|| |
The propositus is a 19-year-old man, a native of Kalyanpur village, Dev-Bhoomi Dwarka district, Gujarat which is also his ancestral birthplace. He belongs to Ahir caste, a traditional cattle-keeping caste who is believed to be of Central Asian origin whose early settlements were limited to Punjab, Rajasthan, and Sind . They are endogamous groups, each divided into exogamous clans (Gotra). He has no clinical complaints and did not ever have a blood transfusion. The hematological data and HPLC parameters are highlighted in [Table 1]. His Hb, red blood cell (RBC), hematocrit (HCT), mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) are normal while mean corpuscular hemoglobin concentration (MCHC) and RDW (CV) are slightly elevated. The HPLC chromatograph showing the Hb A2 and Hb F peaks is shown in [Figure 1]. Hb A2 and Hb F are found to be normal (2.2 and 0.9%, respectively) but falls within α-thalassemia trait and hence suspected in the presence of certain variant Hbs ,. Therefore, Hb electrophoresis on cellulose acetate at alkaline pH (8.6) was done and characterized by Sanger sequencing. Sequencing of the α1 globin gene showed a C→A mutation at codon 120 in exon-3, thus identifying the variant as Hb J-Meerut [α 120 (H3) Ala→Glu] as illustrated in Figure 2. This study was approved by the Ethics Committee, Department of Anthropology, University of Delhi and research study participant consent was also obtained from the propositus.
|Table 1 Hematological and high-performance liquid chromatography parameters of the variant hemoglobin|
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|Figure 1 High-performance liquid chromatography chromatograph showing the hemoglobin variant.|
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| Discussion|| |
This variant has been reported in various populations around the world and was first reported in two sisters from Meerut, Uttar Pradesh, India . Due to similar electrophoretic mobility on paper at pH 8.6, this variant is also known as Hb J-Birmingham which was discovered in two brothers from Bangladesh living in Birmingham, UK . Hb J-Meerut is an infrequently found α-globin variant and is classified as fast-moving Hbs. Hb J-Meerut results from a C→A mutation (GCG→GAG) at codon 120 of the α1 or α2 globin gene, changing the alanine to glutamic acid at residue 120 of the α chain. A GCG→GAG mutation was found in codon 120 of both α1 and α2 globin genes . Position α 120 is external and is not involved in the α1β1 contacts in the Hb molecule. The amino acid substitution at this site may be expected to cause no abnormalities for oxygenation; however, the measurement of the oxygen equilibrium curves of Hb J-Meerut showed a slightly increased oxygen affinity . Hb J-Meerut has been reported to show falsely lower levels of HbA1c than expected from glucose levels ,. Thus, it is essential to know and be aware of such variant Hbs, which has a direct effect on HbA1c so as to avoid mismanagement of diabetic patients in the communities where the prevalence of hemoglobinopathies is very high.
The authors acknowledge the funding support received for this study from the Indian Council of Medical Research (ICMR) through the Grant-in-Aid (GIA) scheme. They appreciate the Department of Anthropology, University of Delhi, for facilitating this research work and express their gratitude to Life Blood Centre − Indian Medical Scientific Research Foundation (IMSRF), Rajkot, Gujarat, and Lions Club, Jamnagar West, Gujarat, for rendering help in data collection. They also acknowledge the support and cooperation of the participants in this study.
The project is funded by the Indian Council of Medical Research (ICMR), Government of India, under the grant-in-aid scheme bearing sanction letter number DHR/7/2014 dated 01/06/2014.
Financial support and sponsorship
Conflicts of interest
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