Asian Journal of Transfusion Science
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LETTER TO THE EDITOR Table of Contents   
Year : 2010  |  Volume : 4  |  Issue : 2  |  Page : 134-135
HB E/β0 Thalassemia can present with normal phenotype


1 Department of Community Medicine, Sikkim-Manipal Institute of Medical Sciences (SMIMS) and Central Referral Hospital (CRH), 5th Mile, Tadong, Gangtok, Sikkim. 737 102, India
2 Department of Community Medicine, NRS Medical College, Kolkata, India
3 MBBS Student, Sikkim-Manipal Institute of Medical Sciences (SMIMS), India

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Date of Web Publication31-Jul-2010
 

How to cite this article:
Pal R, Bagchi S, Kar S, Pal S. HB E/β0 Thalassemia can present with normal phenotype. Asian J Transfus Sci 2010;4:134-5

How to cite this URL:
Pal R, Bagchi S, Kar S, Pal S. HB E/β0 Thalassemia can present with normal phenotype. Asian J Transfus Sci [serial online] 2010 [cited 2021 Jul 31];4:134-5. Available from: https://www.ajts.org/text.asp?2010/4/2/134/67023


Sir,

Hb E is the second most common hemoglobin variant in the world with a high frequency in SE Asia reaching a frequency from 15% to 50% in Thailand, Burma, Srilanka, and Vietnam as the most common hemoglobin variant. Hemoglobin E/β0 Thalassemia, however, resembles homozygous β0 Thalassemia both clinically and hematologically. Heterozygous HbE diseases are asymptomatic with mild hypochromia that is prevalent in Bengal, Assam, and in East India. Homozygous suffer from mild hemolytic anemia and have modest splenomegally with target cell 25-50%. HbE diseases entity often goes unnoticed as most of the cases have no noticeable clinical findings as reviewed extensively by Wasi in Thailand. [1],[2],[3],[4],[5]

A 6 years old girl presented with progressively increasing generalized weakness, difficulty in walking with breathlessness, withdrawn at home, poor appetite since her third birthday. Family history or other histories revealed no significant related events of regular intake of blood.

The girl was moderately pale, mild icteric with mesomorphic features with an apparently normal look for her age and sex with mild hepatosplenomegally. No dysmorphic feature (mega hepatosplenomegally or bronzy discoloration of skin or typical facial changes) suggestive of chronic or congenital hematological diseases was present to bring the child under multiple differential diagnoses. Pulse oxymetry showed 91% oxygen saturation. Hemoglobin level was 4 g% with few reticulocytes, numerous hypochromic nucleated red cells, and microcytes with almost no normal appearing red cells on smear, occasional spherocytes present, more than 50% red cells being the target cells. MCV was 50-66 fL and serum bilirubin 1.84 mg%, unconjugated 1.4, conjugated 0.4. The hemoglobin agar gel electrophoresis at pH 8.6 showed Hb E in the same position as Hb C and Hb A 2 . At pH 6.3, Hb E ran with Hb A; HbA 0.2 g (5.8%), HbF 1.8 g (44.1%), HbE 2.0 g (50.1%). The caregivers were counseled with the 'live with a disease' philosophy and the diagnosis as well as prognosis of this disease was carefully explained in the line of management of β0 Thalassemia.

It is very important to generate awareness among our fraternity regarding subtle presentation and importance of early detection of E/β0 Thalassemia and that timely intervention can help in better prognosis. Professionals related to community pediatrics, clinical epidemiology, and community genetics, functioning in unison, has a dominant role to play in preventing the fatal outcome of this genetic disorder.

 
   References Top

1.Wild BJ, Bain BJ. Investigations of abnormal Haemoglobin and Thalassemias. In Lewis SM, et al, editors. Dacie and Lewis Practical Haematology. Blackwell Publishing; 2001. p. 235.  Back to cited text no. 1      
2.Hoffbrand AV, Pettit JE, Moss PA, editors. Essential Haematology. 4th ed, Reprint updated, Blackwell Science; 2003. p. 87.  Back to cited text no. 2      
3.Easthan RD, Slade RR. Clinical Haematology. 7th ed. 1992. p. 82.  Back to cited text no. 3      
4.Benz EJ. Hemoglobinopathies in haemopoietic disorders. In: Kasper DL, editor. Harrison's Principle of Internal Medicine. 16th ed. McGraw Hill, Medical Publishing Division; 2005. p. 388.  Back to cited text no. 4      
5.Firkin F, Chesterman C, Penington D, Rush B, editors. DeGruchy's Clinical Haematology in Clinical Practice. 5th ed. Indian Reprint, Blackwell Science; 2005. p. 151.  Back to cited text no. 5      

Top
Correspondence Address:
Ranabir Pal
Department of Community Medicine, Sikkim-Manipal Institute of Medical Sciences (SMIMS) and Central Referral Hospital (CRH), 5th Mile, Tadong, Gangtok, Sikkim. 737 102
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0973-6247.67023

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2006 - Asian Journal of Transfusion Science | Published by Wolters Kluwer - Medknow
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