A Rare Case Presentation of HbE/ β Thalassemia
Keywords:
Thalassemia, heterozygous pedigree analysis
Abstract
HbE/β thalassemia (HbE/β thal) genotype accounts for approximately one half of severe β thalassemia cases worldwide. The disorder shows marked clinical variability ranging from mild asymptomatic anemia to life threatening disease. Here, we report a case of a 2-year-old boy from Bihar presenting with severe haemolytic jaundice. Complete haematological profile and Haemoglobin High Performance Liquid Chromatography (Hb HPLC) using Biorad version was done of the patient along with the family was done to arrive at the diagnosis of this rare hemoglobinopathy.References
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2. Warghade S, Britto J, Haryan R, Dalvi T, Bendre R, Chheda P, et al. Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases. J Lab Physicians 2018;10:73-9.
3. Olivieri NF, Pakbaz Z, Vichinsky E.et al. Hb E/beta-thalassaemia: A common & clinically diverse disorder. Indian J Med Res 2011;134:522-31
4. Bharathi KR, Varte V, Singh YA, Devi BK et al. HbE thalassemia in pregnancy. J Med Soc 2015;29:45-6.
5. Mondal SK, Mandal S et al. Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. Asian J Transfus Sci. 2016;10:105‐110.
6. Bhalodia JN, Oza HV, Modi PJ, Shah AM, Patel KA, Patel HB et al. Study of Hemoglobinopathies in patients of anemia using High Performance Liquid Chromatography (HPLC) in Western India. Natl J Community Med. 2015; 6:35-40.
7. Baruah MK, Saikia M, Baruah A et al. Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients. Indian J Pathol Microbiol. 2014;57:236-43.
8. Mohanty D, Colah RB, Gorakshakar AC, Patel RZ, Master DC, Mahanta J et al. Prevalence of beta-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet. 2013;4:33-42.
9. Nambiyar, Kaniyappan & Kumar, Vijay & Marwah, Sadhna & Nigam, AbhayShanker. (2017). Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India. Annals of Pathology and Laboratory Medicine. 4. A610-A614. 10.21276/APALM.1352.
10. Kiran SS, Aithal S, Belagavi CS et al.Hemoglobin E hemoglobinopathy in an adult from Assam with unusual presentation: A Diagnostic dilemma. J Lab Physicians 2016;8:116-9.
11. Thein SL et al. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3:a011700.
12. Allen A, Fisher C, Premawardena A, Peto T, Allen S, Arambepola K, Thayalsuthan V, Olivieri N, Weatherall D et al 2010. Adaptation to anemia in hemoglobin E-β thalassemia. Blood 116: 5368–5370.2010
13. Patri B, Sahu AA, Pal S et al. HbE beta - thalassemia: a case report. Int J Health Sci Res. 2016; 6:440-443.
2. Warghade S, Britto J, Haryan R, Dalvi T, Bendre R, Chheda P, et al. Prevalence of hemoglobin variants and hemoglobinopathies using cation-exchange high-performance liquid chromatography in central reference laboratory of India: A report of 65779 cases. J Lab Physicians 2018;10:73-9.
3. Olivieri NF, Pakbaz Z, Vichinsky E.et al. Hb E/beta-thalassaemia: A common & clinically diverse disorder. Indian J Med Res 2011;134:522-31
4. Bharathi KR, Varte V, Singh YA, Devi BK et al. HbE thalassemia in pregnancy. J Med Soc 2015;29:45-6.
5. Mondal SK, Mandal S et al. Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. Asian J Transfus Sci. 2016;10:105‐110.
6. Bhalodia JN, Oza HV, Modi PJ, Shah AM, Patel KA, Patel HB et al. Study of Hemoglobinopathies in patients of anemia using High Performance Liquid Chromatography (HPLC) in Western India. Natl J Community Med. 2015; 6:35-40.
7. Baruah MK, Saikia M, Baruah A et al. Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients. Indian J Pathol Microbiol. 2014;57:236-43.
8. Mohanty D, Colah RB, Gorakshakar AC, Patel RZ, Master DC, Mahanta J et al. Prevalence of beta-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J Community Genet. 2013;4:33-42.
9. Nambiyar, Kaniyappan & Kumar, Vijay & Marwah, Sadhna & Nigam, AbhayShanker. (2017). Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India. Annals of Pathology and Laboratory Medicine. 4. A610-A614. 10.21276/APALM.1352.
10. Kiran SS, Aithal S, Belagavi CS et al.Hemoglobin E hemoglobinopathy in an adult from Assam with unusual presentation: A Diagnostic dilemma. J Lab Physicians 2016;8:116-9.
11. Thein SL et al. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3:a011700.
12. Allen A, Fisher C, Premawardena A, Peto T, Allen S, Arambepola K, Thayalsuthan V, Olivieri N, Weatherall D et al 2010. Adaptation to anemia in hemoglobin E-β thalassemia. Blood 116: 5368–5370.2010
13. Patri B, Sahu AA, Pal S et al. HbE beta - thalassemia: a case report. Int J Health Sci Res. 2016; 6:440-443.
Published
2020-10-29
Issue
Section
Case Report
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