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Year : 2014  |  Volume : 57  |  Issue : 2  |  Page : 236-243
Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: High performance liquid chromatography studies in 9000 patients

1 Department of Hematology, Madonna Diagnostic and Research Centre, Assam, India
2 Department of Pediatrics, Assam Medical College, Dibrugarh, Assam, India

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Date of Web Publication19-Jun-2014


Background: The hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Data pertaining to the pattern of hemoglobinopathies and thalassemias is scarce in North East India, and hence it was considered worthwhile to study these disorders using a large series of patients referred to a clinical diagnostic laboratory. Aims: A total of 9000 patients referred for Hb variant analysis were studied to identify hemoglobinopathies and thalassemias in Upper Assam region of North East India. Materials and Methods: This study was performed by high performance liquid chromatography (HPLC) using BIORAD variant Hb typing system. Results: Out of 9000 patients studied, abnormal Hb fractions were seen in 5320 patients. The HbE gene was detected in 4315 patients of which HbE trait was seen in 2294 followed by HbE disease in 1892. There were 114 HbE beta thalassemia patients and 15 double heterozygotes of HbE with HbS or HbD. Beta thalassemia trait was seen in 313 patients and beta thalassemia homozygous in 32. HbS gene was detected in 460 patients comprising of HbS trait in 189, HbS disease in 203, S beta thalassemia in 53 and double heterozygotes of SD and ES in 15. The rest comprised of HbD trait in 6, delta beta thalassemia in 33, hereditary persistence of fetal hemoglobin trait in 5 and J chain hemoglobinopathy in 8 patients. Evidence of alpha thalassemia though suspected, could not be confirmed. Conclusion: A high incidence of hemoglobinopathies and thalassemias and their combinations is unique for this part of the country.

Keywords: Hemoglobinopathies, high performance liquid chromatography, North Eastern India, thalassemia, Upper Assam

How to cite this article:
Baruah MK, Saikia M, Baruah A. 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

How to cite this URL:
Baruah MK, Saikia M, Baruah A. 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 [serial online] 2014 [cited 2023 Sep 26];57:236-43. Available from:

   Introduction Top

Hemoglobinopathies and thalassemias are the most common single gene disorders in the world. World Health Organization figures estimate that 5% of the world populations are carriers of a potentially pathological hemoglobin (Hb) gene. [1] Since data on the prevalence of hemoglobinopathies and thalassemias is scarce in India, the Indian Council of Medical Research (ICMR) conducted a multicenter study in six cities of six states, and have found that the overall incidence of beta thalassemia trait (BTT) was 2.78%. [2] Other studies from different parts of India have shown an incidence of beta thalassemia to be 3-15%. [3],[4],[5],[6] The incidence of hemoglobinopathies also differs in different parts of India. In Orissa [6] HbS is very common whereas in West Bengal the commonest hemoglobinopathy seen is HbE. [7],[8] Hb D-Punjab occurs with greatest prevalence (2%) in Sikhs in Punjab. [9] The ICMR study showed that HbE was mainly seen in Assam (23.9%) and Kolkata in West Bengal (3.92%). [2] It is well established that the incidence of HbE gene in the North Eastern region of India is one of the highest in the world. [10] Different states of the North Eastern region show a variable incidence of HbE varying from 16.2% to 47.3%. [11],[12],[13],[14] A huge migrant tea garden population also shows a high incidence of HbS. [15],[16]

Anemia is considered a major public health problem in India. [17] Nutritional and non-nutritional factors causing anemia are widely prevalent in this part of the country. [18]

In view of this it was considered worthwhile to analyze a large series of patients referred to a clinical diagnostic laboratory in the Upper Assam region of North Eastern India to find the pattern of hemoglobinopathies and thalassemias in the workup of anemia.

   Materials and Methods Top

A total of 9000 patients, received for Hb variant analysis between February 2005 and March 2012 were studied for thalassemia and hemoglobinopathies. This was a retrospective study which included patients sent to a clinical diagnostic laboratory by clinicians as a work up for anemia and for confirmation of clinically suspected patients of hemoglobinopathy or beta thalassemia. The geographical distribution of the patients predominantly included North Eastern India, specifically Upper Assam which is considered a mosaic of people with diverse ethnicity and cultural identity. [16] The tests were performed by high performance liquid chromatography (HPLC) based upon the principles of cation exchange chromatography using the BIORAD variant Hb typing system (Variant Beta-Thal Short program). A Hb A2/F calibrator was analyzed at the beginning of each run. The different Hb variants like HbE, S, D and C are identified by using retention time windows which are specified for each of these variants. HPLC was used as an initial screening method; a second confirmatory method like Hb electrophoresis at alkaline ph, isoelectric focusing, and molecular studies were not done though recommended to all patients. It has been suggested that confirmatory testing by electrophoresis can be eliminated in the majority of cases by use of retention time, proportion of total Hb, and peak characteristics of HPLC. [19] The red cell indices were recorded by 3 part hematology analyzer (Micros 60 Horiba, ABX) and the peripheral blood smear (PBS) was examined to look for red cell morphology. Sickling test was done in all patients in whom a variant was detected in the S window. Brilliant Cresyl Blue stain was used to look for inclusion bodies when alpha thalassemia was suspected.

   Results Top

A total of 9000 consecutive patients between February 2005 and March 2012 referred for Hb typing were taken up for retrospective analysis. The age of the patients ranged from 3 days to 98 years with a mean of 27.2 years. The male to female ratio was 1:0.65.

Normal HbAA was seen in 3680 patients (40.89%); abnormal Hb variants in 5320 patients (59.11%) [Table 1]. Normal adult chromatogram shows primarily HbA, a small percentage of HbA 2 (<3.5%) and traces of fetal Hb (<1%). P2 and P3 are normal associates of HbA [Figure 1]. A raised P2 could be observed in diabetics corresponding to a raised HbA1c. As HbF persists up to 1 year of age, it was decided to analyze only patients above this age to get a true picture of Hb fractions in each variant Hb [Table 2]. In patients showing adult Hb (AA) it was seen that 2524 patients (68.5%) presented with anemia (<11.0 g/dl) with Hb ranging from 1.0 g/dl to 10.9 g/dl with a mean of 8.9 g/dl [Table 3]. Macrocytic anemia (mean corpuscular volume [MCV] > 101 fl) was detected in 193 patients. Mean MCV was 80.3 fl, MCH 26.1 pg and red cell diameter width (RDW) was 16.7. HPLC showed mean HbA 87.3%, HbA 2 2.8% and HbF 0.5%.
Table 1: Depicting the various hemoglobinopathies and thalassemias in tabular form and in percentages that were encountered in the 9000 patients

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Table 2: Hb fractions in various hemoglobinopathies

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Table 3: RBC indices in various hemoglobinopathies

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HbE elutes in the A 2 window with retention times ranging from 3.68 to 3.98 min. Hb ranged from 0.6 g/dl to 15.8 g/dl in HbE trait (AE) patients with a mean of 9.6 g/dl and RDW of 15.6. Anemia was seen in 1520 (67.5%) out of 2250 patients which consisted of a microcytic hypochromic anemia with the PBS showing anisocytosis, hypochromia and target cells. 18 patients showed a macrocytic anemia. The HbE fraction ranged from 16.9% to 40.8% with a mean of 29.0%; HbA ranged from 55.7% to 70.9% with a mean of 59.6%. In 51 patients AE was associated with a raised HbF ranging from 4.7% to 22.9% [Figure 2].

Similarly, in HbE disease (EE) Hb ranged from 1.4 g/dl to 14.4 g/dl. Anemia was seen in 1834 (98.4%) out of 1862 patients which again consisted of a microcytic hypochromic anemia with the PBS showing anisocytosis, hypochromia and target cells. Hb in these patients had a mean of 8.9 g/dl and an RDW ranging from 11.6% to 29.2 (mean 16.7). Two patients showed macrocytic anemia. The level of HbE ranged from 65.6% to 95.0% with a mean of 79.9%; HbF ranged from 0% to 16.7% with a mean of 4.6% and HbA was 0.6-10.6% with a mean of 4.1%.

HbA2 levels of 4-9% are diagnostic of BTT in an asymptomatic individual with no or mild anemia. 313 patients (3.48%) were diagnosed to be of BTT [Figure 3]. HbA2 ranged from 4.0% to 8.5% with a mean of 5.3%.
Figure 1: Normal patient hemoglobin (Hb) AA

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Figure 2: Hemoglobin (Hb) AE with high HbF

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Figure 3: Beta thalassemia trait with A2 fraction 5.6%

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As no laboratory tests could differentiate between beta thalassemia major and intermedia which is basically a clinical subdivision, it was decided to group both these groups together as beta thalassemia homozygous [Figure 4]. 5 of these patients had a history of recent blood transfusion, the diagnosis having been made in combination with parental study. Analyzing the rest of the 27 patients, it is seen that the age at presentation ranged from 7 months to 12 years with the peak incidence at 4.2 years. The Hb ranged from 1.3 g/dl to 9.0 g/dl with the PBS showing marked degree of anisopoikilocytosis with hypochromia and polychromacia and a raised RDW (19.7-34.2 mean 26.8). HbF levels ranged from 74.4% to 98.4% with a mean of 88.6%.
Figure 4: Beta thalassemia Homozygous with hemoglobin F 93.7%

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HbE beta thalassemia, the compound heterozygous state of HbE and beta thalassemia, results in a variable clinical picture similar to that of homozygous beta thalassemia. 114 (1.27%) patients were diagnosed to be HbE beta thalassemia [Figure 5]. The age at presentation ranged from 7 months to 60 years. HbE ranged from 32.8% to 82.0% (mean 56.7%) while HbF ranged from 14.9% to 57.2% (mean: 30.7%). The level of HbA was from 0.4% to 8.7% with a mean of 3.8%. A parental study was done in all patients where the HbF level was above 10% to detect the beta thalassemia gene in either of the parents. The PBS invariably showed anisopoikilocytosis with hypochromia and target cells depending on the severity of the anemia with the red cell indices showing a microcytic hypochromic anemia, and an RDW of 15.6-39.8 (mean 23.6).
Figure 5: Hemoglobin E beta thalassemia with A2/E 51.6% and F 43.1%

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HbS elutes in the S window with a retention time of 4.12-4.42 min. Sickle cell anemia (SS) was the predominant abnormality followed by HbS trait (AS). The age of the patients of HbAS ranged from 6 months to 60 years with a peak incidence at 20 years while those of HbSS ranged from 1.6 years to 55 years with a peak incidence at 12 years. The age at presentation of S beta thalassemia patients was from 1.6 years to 40 years with a peak incidence also at 12 years.

Hb in HbAS ranged from 1.1 to 14.4 g/dl with a mean of 6.4 g/dl. Anemia was seen in 167 (88.3%) patients which consisted of a microcytic hypochromic anemia. 20 patients showed a macrocytic anemia. HbS comprised of a mean of 30.1% (range 15.4-43.3%) while HbA comprised of a mean of 57.1% (range 36.3-68.6%). In 14 adult patients, HbAS was associated with a raised HbF ranging from 5.0% to 12.4%.

In HbSS, Hb ranged from 1.4 to 12.6 g/dl with a mean of 6.2 g/dl. Anemia was seen in 199 (98.0%) patients which consisted of a microcytic hypochromic anemia in 99 patients (48.7%) with the PBS showing anisopoikilocytosis, hypochromia, target cells and polychromacia. 9 patients showed a macrocytic anemia. HbSS was invariably associated with a raised HbF ranging from 4.3% to 47.6% (mean 19.0%). Only 1 patient showed normal HbF of 0.6%. 53 patients of HbSS were confirmed to be double heterozygotes of HbS and beta thalassemia [Figure 6]. Hb ranged from 1.7 to 10.3 g/dl with a mean of 5.7 g/dl and the PBS showed a severe degree of anisopoikilocytosis with RDW ranging from 17.2 to 40.6 (mean 21.2). The level of HbS in these patients ranged from 42.8% to 86.7% (mean 69.3%), A2 from 5.1% to 8.9% (mean 6.3%), HbA from 0.9% to 10.8% (mean 4.6%), and HbF from 8.3% to 45.0% (mean 18.9%).

HbD trait and double heterozygote conditions of HbED [Figure 7] and HbSD [Figure 8] were detected in 10 patients (0.11%). HbD elutes in the D-window with a retention time of 3.98-4.12 min. HbD ranged from 15.4% to 61.7%. A double heterozygote condition of HbES [Figure 9] was seen in 13 patients with HbE ranging from 17.0% to 70.1% and HbS ranging from 9.8% to 62.4%.
Figure 6: S beta thalassemia with hemoglobin (Hb) S 70.4% HbF 18.9%
and A2 5.4%

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Figure 7: Hemoglobin (Hb) ED with HbE 24.1% and D 61.0%

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Figure 8: Hemoglobin (Hb) SD with HbS 34.7% and D 40.3%

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Figure 9: Hemoglobin ES with E 31.8% and S 44.7%

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Eight patients of J chain hemoglobinopathy [Figure 10] having an elevated P3 window with a retention time of 1.60-1.90 min was seen with the abnormal Hb peak of 9.8% to 28.4%. One of these patients had HbAE, 2 HbEE while the rest were HbAA. Based on the retention time a diagnosis of HbJ Meerut was made. [19]
Figure 10: J chain Hemoglobinopathy showing P3 peak 28.9% and A 59.4%

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The beta thalassemia short program used in the variant does not integrate elution peaks that occur with a retention time of <0.63 min and are not indicated in the chromatogram report. Hb Barts, HbH, and HbF1, the acetylated form of HbF all elute at this range. Tall peaks caused by hyperbilirubinemia [20] with elution times and shapes of Hb Barts have been observed in many of our patients [Figure 11]. However, though suspected, no classical HbH or Hb Barts peaks were detected.
Figure 11: Fast moving peak with retention time <0.63 min (see text)

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In patients above 1 year of age, a raised HbF above 5% together with adult Hb was seen in 62 patients. 7 of these patients were because of pregnancy, 2 had leukemia and 15 presented with macrocytic anemia. The rest of the 38 patients had HbF levels ranging from 5.2% to 20.6%. Heterozygous hereditary persistence of fetal hemoglobin (HPFH) was suggested in 5 patients with HbF ranging from 15.2% to 20.6% with mean MCV of 84.8fl and RDW of 13.3. Delta beta thalassemia [Figure 12] was suspected in 33 patients having HbF ranging from 5.2% to 14.8% (mean: 7.6%) and HbA2 levels ranging from 1.3% to 2.9% (mean: 2.2%). The mean MCV was 72.1fl and RDW was 19.8.
Figure 12: Delta beta thalassemia with hemoglobin F level of 14.8%

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In 161 patients the chromatograms were distorted because of recent blood transfusions and diagnosis could not be made in these situations. However, possibilities were suggested with a recommendation to repeat the test 3 months after the last blood transfusions or a parental study. In 5 patients of this group the level of HbA2/E was 10.7-16.9%. Hb Lepore was ruled out as the typical peak characteristics were not present. The possibility of HbE with unconfirmed blood transfusions or of concomitant alpha thalassemia was suggested.

   Discussion Top

The North Eastern region of India particularly Assam is a rich reservoir of hemoglobinopathies and thalassemias because of the migration of various races over the ages and hence being home to an assortment of socio-cultural, linguistic and ethnically diverse people. It has been shown by earlier authors that a high gene frequency for HbE is prevalent in autochthonous inhabitants of Assam, having cultural and linguistic affiliation with the population of South East Asian countries, [10] whereas HbS is restricted to the tea garden labor communities, a group of population brought to Assam by the British colonial tea planters from central, Eastern and Southern India during mid-19 th century. [16] Though the HbE gene has been detected across all ethnic groups in Assam like the Ahom, Koch, Chutia, Muttock, Deori, Sonowal and Mishing groups, the highest incidence has been detected in the Bodo-Kacharis an ethnic group speaking Tibeto-Burman languages, although all have a common ancestry. [2],[10]

About 60% patients in this study showed some form of hemoglobinopathy or thalassemias. Altogether 10 different variants and their combinations were detected which included BTT, beta thalassemia homozygous, HbE, S, D, delta beta thalassemia, HPFH, and J chain hemoglobinopathy. No HbQ or C was detected. Confirming previous studies the majority of the patients had the HbE gene (47.94%) of which HbE trait (25.48%) was the predominant variant followed by HbE disease (21.02%). BTT was detected in 3.48% a slightly higher incidence than the population based studies in this region like the ICMR study which showed an incidence of 1.48%. [2] Beta thalassemia homozygous was detected in 32 patients (0.36%) which included patients of beta thalassemia major and intermedia.

The more important finding was the high incidence of HbE beta thalassemia (1.26%). It is said that world-wide approximately 50% of severe beta thalassemia major patients are of HbE beta thalassemia. [21] In our study, the number of E beta thalassemia patients was more than 3 times the number of beta thalassemia homozygous (114 patients of E beta thalassemia as against 32 of beta thalassemia homozygous). These patients present with a variable clinical picture ranging from a condition indistinguishable from beta thalassemia major requiring blood transfusions from infancy to a mild form of thalassemia intermedia showing a mild asymptomatic anemia. The ICMR study reported a higher incidence of 1.44% [2] in the general population. This is noteworthy, as the paucity of patients in the literature had suggested under diagnosis or complete elimination of beta thalassemia by HbE based on the Hardy-Weinberg law. [22]

The finding of a raised HbF in some HbAE and HbAS patients was difficult to explain. The possibilities of concomitant heterozygous HPFH or delta beta thalassemia was thought of, but not confirmed.

The HbS gene was detected in 5.11% of patients of which SS was the predominant abnormality followed by HbS trait. The higher incidence of SS when compared to AS was because this was a laboratory based study as opposed to a population based study. An interesting point in patients of HbSS was the finding of an invariably high fetal Hb level. The haplotype of HbS gene that is prevalent in India is the Saudi Arabia/Indian haplotype. This haplotype is associated with higher levels of HbF which reduces the clinical severity of the disease. [23]

HbD trait and double heterozygote condition of HbED and HbSD were detected in 10 patients. In India gene frequency of HbD is relatively low with a tendency to cluster towards the north-western part of the country. [24] In the North Eastern states only 1 other report of HbD occurring in a mongoloid non-tribal family has been reported. [25] Double heterozygote conditions of HbSD and ED has never been reported from this part of the country.

13 patients of double heterozygote patients of HbES were detected. In spite of a high incidence of HbE gene and HbS in this population the low incidence of this condition could be explained by the less interaction and marriage between the 2 populations, one being the indigenous people of Assam, while the other being the migrant tea tribe population. Inevitable intermingling of the migrant tea tribe community with local Assamese people and gene flow over the ages should result in finding increasing numbers of this condition in future.

J chain hemoglobinopathy has never been reported from this part of the country and that too in association with HbE. Our finding of 8 patients with HbJ Meerut is probably the highest from any other center in India. Srinivas et al. [26] in their study have reported 7 cases from New Delhi. These alpha chain hemoglobinopathies are clinically silent and are detected accidently.

Alpha thalassemia is a common problem of South East Asian countries with gene frequencies reaching up to 30-40% in some parts of Thailand. [27] As the indigenous population have a common ancestry to South East Asian countries, it is expected that a high incidence of alpha thalassemia exists in this population. An incidence of 3.84% in some Assam tribesmen has been reported previously. [28] In our study however, we could not conclusively show its incidence though suspicion was raised when a fast moving peak was seen or the HbE peak in AE was <20%. The incidence of alpha thalassemia and its interactions with beta chain hemoglobinopathies needs to be studied further.

Delta beta thalassemia is a rare cause of elevated fetal Hb. Very few cases have been reported from India. [29] HPFH has also been reported infrequently from different regions of India. [30] In this study, the difference in the two was made on the basis of the percentage of HbF, the MCV and the RDW. The ICMR multicenter study has found an incidence of 0.73% of delta beta thalassemia and 0.18% of HPFH in this part of the country. [2]

Moderate to severe degree of anemia was seen in majority of our patients as this was a laboratory based study with patients being sent as a workup for anemia. Some of our patients included lymphomas and leukemias, megaloblastic anemias, aplastic anemias and other nutritional and non-nutritional causes of anemia. Such coexisting causes have contributed to the severity of the anemia in the patients in this study. Because of the high incidence of hemoglobinopathies clinicians are attuned to ask for a Hb variant analysis for a cause of anemia or coexistent hemoglobinopathy, though many a time the hemoglobinopathy itself cannot explain the severity of anemia. Furthermore, it is difficult to set cut-off values in the red cell indices for these disorders as suggested by some authors [31] because of the many factors that play a role in the cause of anemia in an individual patient. A positive correlation between HbE gene frequency and mean incidence of plasmodium falcifarum malaria has also been observed in this part of the country. [16]

   Conclusion Top

We have seen that Assam is a rich reservoir of hemoglobinopathies and thalassemias. It is seen that nearly 60% of all patients of anemia coming for investigations will show some form of this disorder. This study has shown an unusually high incidence of all major hemoglobinopathies and thalassemias, and some combinations hitherto unreported from this part of the country. The interaction between hemoglobinopathies with concomitant alpha, beta or delta beta thalassemia coupled with other causes of anemia makes diagnosis of these conditions a challenging task.

   References Top

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Correspondence Address:
Mrinal Kumar Baruah
Madanasree, Zig-Zag Road, Chowkidinghee, Dibrugarh - 786 001, Assam
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.134680

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12]

  [Table 1], [Table 2], [Table 3]

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3 Profile of Hemoglobin D (HbD) Disease in Eastern Uttar Pradesh: A Single-Center Experience
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4 Assessing the Need for a Population-based Screening for Thalassemia in Pregnancy: Systematic Analysis of Evidence from Uttar Pradesh
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Murab Parul, Verma Deepshikha, Sulya Maneesh, Nigam R.K., Malik Reeni
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6 Adrenal incidentaloma needs thorough biochemical evaluation An institutional experience
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7 Pulmonary Function in Children With Transfusion-Dependent Thalassemia and Its Correlation With Iron Overload
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Indian Pediatrics. 2022; 59(6): 455
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8 Prevalence and Management of -Thalassemia in India
Surabhi S. Yadav, Pooja Panchal, Kavitha C. Menon
Hemoglobin. 2022; : 1
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9 Hemoglobinopathy in pediatric population: A cross sectional study at tertiary care center in Assam
Uttam Kumar Mondal, Pritikar Dowerah, Ranajit Mukherjee
Indian Journal of Medical Sciences. 2021; 0: 1
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10 A decision support scheme for beta thalassemia and HbE carrier screening
Reena Das, Saikat Datta, Anilava Kaviraj, Soumendra Nath Sanyal, Peter Nielsen, Izabela Nielsen, Prashant Sharma, Tanmay Sanyal, Kartick Dey, Subrata Saha
Journal of Advanced Research. 2020; 24: 183
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11 Phenotypic Diversity and Clinico-Hematological Profile of Hb E-Beta Thalassemic Children
Aditi Baruah,Mrinal Kumar Baruah
Indian Journal of Hematology and Blood Transfusion. 2019;
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12 Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India
Dipti Upadhye,Rajat S. Das,Jayanta Ray,Shukdeb Acharjee,Kanjaksha Ghosh,Roshan B. Colah,Malay B. Mukherjee
Hemoglobin. 2018; 42(1): 43
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13 Prenatal Diagnosis of HbE--Thalassemia: Experience of a Center in Western India
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Indian Journal of Hematology and Blood Transfusion. 2018; 34(3): 474
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14 Spectrum and hematological profile of hereditary anemia in North Indians: SGPGI experience
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15 Burden of thalassemia in India: The road map for control
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16 Priapism Associated with Homozygous Hb E State: A Causal Association or an Incidental Finding?
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