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Year : 2008  |  Volume : 51  |  Issue : 4  |  Page : 570
Hemoglobin E disease with concomitant tuberculosis

Department of Pathology, Maulana Azad Medical College, New Delhi - 110 002, India

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How to cite this article:
Jain D, Gupta SK, Singh T. Hemoglobin E disease with concomitant tuberculosis. Indian J Pathol Microbiol 2008;51:570

How to cite this URL:
Jain D, Gupta SK, Singh T. Hemoglobin E disease with concomitant tuberculosis. Indian J Pathol Microbiol [serial online] 2008 [cited 2022 Sep 25];51:570. Available from:


Hb E is variant hemoglobin with a mutation in the β globin gene that causes the substitution of glutamic acid for lysine at position 26 of the β globin gene. Hb E disease is defined by the coexistence of 2 β E alleles. [1] In general, individuals with the genotype EE are completely asymptomatic or slightly anemic. Infections are not commonly observed in these patients. [2] However, herein, we report a patient of Hb E disease with concomitant tuberculosis. We report this case because of the rare association of tuberculosis (TB) with Hb EE, which has not been reported thus far.

A 17-year-old male presented with low-grade fever for the last one month. He was a native of West Bengal, India. His physical examination revealed pallor and mild splenomegaly. Hematologic investigations showed severe anemia with Hb of 5.9 g/dl, MCV 55.0 fl, MCH 19.2 pg and MCHC 34.9 g/dl. Peripheral blood smear examination showed mild anisopoikilocytosis with microcytes and target cells. There was mild hypochromia. Platelets were adequate on smear. The total leukocyte count was 5,870/cumm and the differential leukocyte count was within the normal range. Bone marrow examination was performed to sort the cause of anemia and fever. It revealed normocellular marrow with marked erythroid hyperplasia. Myeloid erythroid ratio was 1:1. Erythropoiesis was normoblastic. Myeloid and megakaryocytic lineages were within the normal limits. Bone marrow iron was grade 4. On the basis of all the above bone marrow findings, Hb electrophoresis was suggested. Hb Electrophoresis (at alkaline pH on agarose gel) showed single band in the region of Hb E, A2 and C. Hb F was normal (0.8%). Parental screening showed heterozygous Hb AE. Therefore, a diagnosis of Hb E disease (homozygous state EE) was made. Further, on processing of bone marrow biopsy, few epithelioid cell granulomas were observed along with erythroid hyperplasia [Figure 1]. Myeloid and megakaryocytic lineages were adequately represented. Ziehl-Neelsen stain showed positivity for acid-fast bacilli. On the basis of these findings, a final diagnosis of hemoglobin E disease with coexistent tuberculosis was given. Subsequently, the patient received antitubercular therapy and he responded well after 4 months of treatment.

Hb E is most commonly found in South East Asian population. [3] Subjects homozygous for Hb E are asymptomatic; however, severity of E/β thalassemia is variable, ranging from that of thalassemia minor to thalassemia major. [2] Infection is a major complication and the foremost cause of death in thalassemia, particularly E-β thalassemia. The variety of infections in E-β thalassemia include mild to severe bacterial, viral, fungal and parasitic infections, therapy-related infections associated with iron chelators and transfusion-transmitted diseases. The predisposing factors of infections in thalassemia include splenectomy, iron overload, anemia and granulocyte dysfunctions. In contrast, homozygous Hb E patients do not usually manifest infections. [4] In the present case, the patient presented with low-grade fever and anemia and while investigating him, coexistent mycobacterium tuberculosis infection was revealed along with the Hb E disease.

To the best of our knowledge, this rare association has not been documented thus far in the literature. Reasons for this rare coexistence may be due to the fact that in India, most of the cases of tuberculosis are undetected and unreported. [5] Therefore, no case has been reported along with Hb E disease. The other reason is that Hb E disease is mostly asymptomatic; therefore, its association with tuberculosis may not be revealed. This case also highlights the fact that although bone marrow biopsy is not mandatory in the diagnosis of hemolytic anemia, it may be helpful in uncovering the coexistant infectious, infiltrative or neoplastic diseases involving the marrow. In particular, in the regions where tuberculosis is highly prevalent, such as in India, one should investigate for tuberculosis in suspicious cases. This may be helpful for the patient for specific therapeutic intervention as in our case.

   References Top

1.Chernoff AI, Minnich V, Chongchareonsuk S. Hemoglobin E: A hereditary abnormality of human hemoglobin. Science 1954;120:605-6.  Back to cited text no. 1    
2.Fucharoen S, Ketvichit P, Pootrakul P, Siritanaratkul N, Piankijagum A, Wasi P. Clinical manifestation of beta-thalassemia/hemoglobin E disease. J Pediatr Hematol Oncol 2000;22:552-7.  Back to cited text no. 2    
3.Flatz G, Sanguansermsri T, Sengchanh S, Horst D, Horst J. The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. Hemoglobin 2004;28:197-204  Back to cited text no. 3    
4.Wanachiwanawin W. Infections in E- β thalassemia. J Pediatr Hematol Oncol 2000;22:581-7.  Back to cited text no. 4    
5.Available from:  Back to cited text no. 5    

Correspondence Address:
Deepali Jain
Department of Pathology, Maulana Azad Medical College, New Delhi - 110 002
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.43770

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