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Year : 2015  |  Volume : 58  |  Issue : 1  |  Page : 126-127
A rare case of double heterozygous state for HbD and HbE

1 Lab Oncology Unit, Dr B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences, New Delhi, India
2 Department of Haematology, Sir Ganga Ram Hospital, New Delhi, India
3 Department of Haematology, All India Institute of Medical Sciences, New Delhi, India

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Date of Web Publication11-Feb-2015

How to cite this article:
Gupta SK, Dass J, Saxena R. A rare case of double heterozygous state for HbD and HbE. Indian J Pathol Microbiol 2015;58:126-7

How to cite this URL:
Gupta SK, Dass J, Saxena R. A rare case of double heterozygous state for HbD and HbE. Indian J Pathol Microbiol [serial online] 2015 [cited 2021 May 16];58:126-7. Available from: https://www.ijpmonline.org/text.asp?2015/58/1/126/151217


A 35-year-old male patient, the resident of Bihar, presented to our hospital with generalized weakness and fatigability for 6 months. There was no history of any chronic illness, drug intake or similar complaints in the family. Hemogram showed hemoglobin (Hb) of 136 g/L, total leukocyte count 6.8 × 10 9 /L and platelets 193 × 10 9 /L. Red blood cell count was 5.62 × 10 12 /L and red cell distribution width (standard deviation) was 29 fL. Mean cell volume (MCV), mean cell hemoglobin (MCH) and mean cell hemoglobin concentration were 73.7 fL, 24.2 pg and 32.9%, respectively. Peripheral blood smear showed normocytic to microcytic hypochromic red cells with the presence of few target cells. Reticulocyte count was 0.9%. Hb-high performance liquid chromatography (HPLC) was done using Bio-Rad Variant and the corresponding Beta-Thalassemia Short Program, (Bio-Rad laboratories, Inc. Hercules, California, USA) to rule out underlying hemoglobinopathy. It revealed raised Hb in D-window (63.9%), raised HbA2/E (26.5%) and normal HbF (0.4%) [Figure 1]. Besides HbE, the other Hbs eluting in the A2 window include Hb lepore (usual range 5-15%), HbD-Iran (usually >36%), G-Coushatta (usually >40%) etc., but agarose gel Hb electrophoresis (pH 8.6) confirmed double heterozygous state HbDE with a very prominent band in HbD and a faint band in the HbE region [Figure 2]. The 4% component identified as HbA0 on Hb-HPLC [Figure 1] possibly indicated various posttranslationally modified and glycated adducts of the variant hemoglobins. Subsequently done family studies revealed the father to be heterozygous for HbD and the mother to be heterozygous for HbE. The patient was also detected to have latent iron deficiency with low serum iron levels (38 μg/dL) and low transferrin saturation (11.2%). Further work-up could not be done as the patient was lost to follow-up.
Figure 1: Hemoglobin-high performance liquid chromatography chromatogram showing HbF (0.4%) and two large peaks of HbA2/E (26.5%) and D-window (63.9%)

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Figure 2: Agarose gel hemoglobin electrophoresis (pH 8.6) with patient sample showing bands in HbD and HbE region. The other samples include normal (HbA band), HbE-β-thalassemia (HbF and HbE bands) and HbD trait (heterozygous HbD) (HbA and HbD bands) (Amido black stain)

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HbE (β26Glu→Lys ) is usually seen in South-east Asians and eastern and North-eastern states of India including Bihar. Heterozygous (HbAE) and homozygous (HbEE) forms are clinically mild or asymptomatic, whereas double heterozygous HbE-β-thalassemia is more symptomatic; mostly presenting as thalassemia intermedia clinically and sometimes with even thalassemia major phenotype. The usual ethnic origin of HbD (β121Glu→Gln ) is in Punjabis, Northern European, Greek, Turkish, Yugoslav, Afro-American, Afro-Caribbean and Chinese. In India, its prevalence is mainly in the north-western parts like Punjab and Gujarat. [1] The HbD variants are clinically mild or asymptomatic in heterozygous (HbAD) and homozygous state (HbDD) and even with β-thalassemia. We could find only two published reports with cases of HbDE possibly due to their prevalence in people with different geographical location and ethnicity. [2],[3] The 6 patients in these two reports had normal or reduced Hb (75-153 g/L), low MCV (63-88.4 fL), low MCH (19.1-24.5 pg), raised Hb D (61.2-65.5%), raised HbA2/E (26.7-29.6%) and normal HbF (0.6-1.7%). The documentation of these cases may help in antenatal counseling of HbD and HbE carrier parents. Uncommon double heterozygous states may be encountered with increasing incidence in future, particularly in places with a confluence of people with diverse sociocultural and ethnic background.

   References Top

Bain BJ. Other significant haemoglobinopathies. In: Bain BJ, editor. Haemoglobinopathy Diagnosis. Massachusetts: Blackwell Publishing, Inc.; 2006. p. 190-233.  Back to cited text no. 1
Sharma SK, Gogoi S, Dutta R, Mahanta J. Haemoglobin D in a mongoloid non-tribal family: A report from northeast India. Curr Sci 2003;84:752-3.  Back to cited text no. 2
Edison ES, Shaji RV, Chandy M, Srivastava A. Interaction of hemoglobin E with other abnormal hemoglobins. Acta Haematol 2011;126:246-8.  Back to cited text no. 3

Correspondence Address:
Dr. Sanjeev Kumar Gupta
Lab Oncology Unit, Dr. B.R.A. IRCH, All India Institute of Medical Sciences, Room No. 424, Ansari Nagar, New Delhi - 110 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.151217

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