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Year : 2014  |  Volume : 3  |  Issue : 4  |  Page : 295-296

Haemoglobin E/β-thalassemia

1 Department of Pathology, Maharajah's Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India
2 Department of Medicine, Maharajah's Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India

Date of Web Publication10-Dec-2014

Correspondence Address:
Sudhasmita Rauta
Department of Pathology, Maharajah's Institute of Medical Sciences, Vizianagaram - 535 217, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-8632.146672

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How to cite this article:
Rauta S, Sahoo AK. Haemoglobin E/β-thalassemia. J NTR Univ Health Sci 2014;3:295-6

How to cite this URL:
Rauta S, Sahoo AK. Haemoglobin E/β-thalassemia. J NTR Univ Health Sci [serial online] 2014 [cited 2023 Feb 9];3:295-6. Available from: https://www.jdrntruhs.org/text.asp?2014/3/4/295/146672


We report a case of hemoglobin E (Hb E) thalassemia. A 25-year-old Hindu male presented with severe anemia and jaundice. Physical examination revealed pallor (3+), icterus (2+), huge splenomegaly (11 cm) with mild hepatomegaly (3 cm). Laboratory investigations revealed a serum bilirubin level was 4.6 mg/dL (indirect 3.2 mg/dL; direct 1.4 mg/dL), Hb level of 5.5 g/dL, platelet count of 240 × 10 3 /μL and a reticulocyte count of 24%. Mean corpuscular Hb was 21.5 pg, mean corpuscular volume (50.3 fl) and mean cellular Hb concentration was 43 g/dl. Hb electrophoresis showed absence of Hb A, Hb F 27.9%, HbA 2 7.4% and Hb E 64.7% [Figure 1]. The peripheral blood picture showed severe anisopoikilocytosis of the red blood cells (RBCs) with the presence of a fair number of microcytes, target cells, tear drop cells, schistocytes and marked hypochromia, occasional fragmented cells. Nucleated RBCs were 20/100 white blood cell. Coomb's test and sickling test were negative. Osmotic fragility was decreased (lysis started at 0.40 g% sodium chloride solution as opposed to control, where it started at 0.50 g%). Thus, a diagnosis of Hb E/β-thalassemia was made. The patient's family history revealed that his elder brother died at the age of 10 years and had a history of repeated blood transfusions. An electrophoretogram of the father revealed an AE pattern (Hb E trait), whereas electrophoretogram of the mother came as normal (AA pattern). So the high-performance liquid chromatography analysis was performed for her that confirmed β-thalassemia minor (β-thalassemia trait) in the mother.
Figure 1: Electrophoresis report showing hemoglobin E/thalasemia

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Hemoglobin E is mostly restricted to the North-Eastern states of India that is, West Bengal, Assam, Nagaland, Manipur, Tripura and Meghalaya with an average allele frequency of 10.9%. Hb E disorders may be found in heterozygous (AE), homozygous (EE) and compound heterozygous states (e.g., Hb E with other abnormal Hb or thalassemias) with widely variable clinical phenotypes. [1],[2],[3] Hb E is a variant Hb with a mutation in beta globin gene causing substitution of glutamic acid for lysine at position 26 in beta globin chain.

Individuals with Hb E Trait are, usually, not anaemic and have no symptoms. Hematological investigations of these individuals reveal a mild microcytosis, hypochromia and erythrocytosis as seen with the β-thalassemia trait. However, identification of these individuals is of crucial importance as they may be transmitters of the abnormal gene, giving rise to various combinations of Hemoglobinopathies in their progeny. The presentation of Hb E disease is mild to moderate. Most patients show clinical symptoms by the age of 10 years. The clinical picture of Hb E/β-thalassemia is variable, ranging from β-thalassemia minor through β-thalassemia intermedia to β-thalassemia major, but most of the patients have moderately severe disease. [4],[5] Management of Hb E thalassemia is similar to homozygous thalassemia. In those patients with Hb >7 g% without complications, long-term folic acid is recommended. Many patients may benefit from hydroxyurea therapy that decreases ineffective erythropoiesis and increases Hb with or without an increase in HbF.

  References Top

Weatherall DJ. Introduction to the problem of hemoglobin E-beta thalassemia. J Pediatr Hematol Oncol 2000;22:551.  Back to cited text no. 1
Fucharoen S, Winichagoon P. Clinical and hematologic aspects of hemoglobin E beta-thalassemia. Curr Opin Hematol 2000;7:106-12.  Back to cited text no. 2
Olivieri NF, Muraca GM, O'Donnell A, Premawardhena A, Fisher C, Weatherall DJ. Studies in haemoglobin E beta thalassaemia. Br J Haematol 2008;141:388-97.  Back to cited text no. 3
Krishnamurti L. Few reports of hemoglobin E/beta-thalassemia in Northeast India: Underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E. J Pediatr Hematol Oncol 2000;22:558-63.  Back to cited text no. 4
Premawardhena A, De Silver S, Arambepola M, Olivieri NF, Vichinsky EP, Merson L, et al. Hemoglobin E-beta-thalassemia: Progress report from the International Study Group. Ann N Y Acad Sci 2005;1054:33-9.  Back to cited text no. 5


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