Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Dr. Mamta Gupta,
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An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
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Aug 2018

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Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
On May 11,2011

Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
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Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."

Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
On April 2011

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.

Dr. Anuradha
On Jan 2020

Important Notice

Original article / research
Year : 2022 | Month : June | Volume : 16 | Issue : 6 | Page : SC15 - SC18 Full Version

Clinical Profile and Cardiac Complications of Haemoglobinopathies in Children at Tertiary Care Centre in Hyderabad, India: A Cross-sectional Study

Published: June 1, 2022 | DOI:
Paramesh Pandala, Siddhartha Gangadhari, Raghava Polanki, Rakesh Kotha, B Venkateshwarlu

1. Assistant Professor, Department of Paediatrics, Niloufer Hospital, Hyderabad, Telangana, India. 2. Assistant Professor, Department of Paediatrics, Niloufer Hospital, Hyderabad, Telangana, India. 3. Assistant Professor, Department of Paediatrics, Niloufer Hospital, Hyderabad, Telangana, India. 4. Associate Professor, Department of Neonatology, Niloufer Hospital, Hyderabad, Telangana, India. 5. Civil Surgeon, Distric Hospital, Yadadri Bhongir, Telangana, India.

Correspondence Address :
Dr. Rakesh Kotha,
Associate Professor, Department of Neonatology, Niloufer Hospital, Hyderabad, Telangana, India.


Introduction: Haemoglobinopathies include a group of inherited, chronic haemolytic anaemias which are transfusion dependent. Haemolytic Anaemia is a public health problem and has a high prevalence in Asian countries. Cardiac morbidity and mortality are burdens of these disorders as a result of chronic anaemia and iron overload despite iron chelation therapy. For this reason, it is recommended that regular cardiac evaluation should be done for all patients with haemoglobinopathies.

Aim: To study the clinical and laboratory profile of haemoglobinop-athies and, the cardiac complications in transfusion-dependent patients by conventional echocardiography.

Materials and Methods: This hospital-based, cross-sectional observational study was conducted in Department of Paediatrics at Niloufer Hospital, Hyderabad, Telangana, India, from 2020 March to 2022 February. Diagnosis confirmed clinically or by Laboratory including 2D Echocardiography (ECHO). Variable measures are demographic data of the child, clinical features, laboratory changes, and 2D ECHO changes. Continued variables (quantitative) were analysed calculating mean and standard deviation and performing T-test or Mann-Whitney’s test.

Results:The mean age of children with haemoglobinopathy was 4.8±2.86 years. Patients with serum ferritin >1000 mg/dL had more than 10 transfusions per year in 33 cases. The 2D ECHO was abnormal in 65% of patients, among these 61% of patients showed increased Left Ventricular (LV) mass/m2 in ECHO, and 39% had normal LV mass/m2. The mean ejection fraction in the patients was 64.82%. Pulmonary hypertension was seen in 25% of patients and 42 patients had mild tricuspid regurgitation.

Conclusion: There is a possibility of reducing the disease burden by health education and avoiding parental consanguinity as almost half of the patients have parental consanguinity. Serial echocardiography is recommended to screen for early discoveries of cardiac abnormalities in asymptomatic children and timely initiation of appropriate therapy.


Anaemia, Chealation therapy, Echocardiography, Ferritins, Stroke volume

Anaemia is the most prevalent problem in the world, particularly in developing countries. Haemolytic anaemia accounts for 5 % of all anaemias affecting the paediatric population with a varied incidence in different parts of the world (1). Haemoglobinopathies are the world's most common group of monogenic disorders with an estimated 7% of the global population carrying these diseases (2). Haemoglobinopathies are Haemoglobin (Hb) defects include sickle cell anaemia (unstable Hb disease, HbC, HbD, HbE), thalassaemia (α or β-thalassemia) and sickle cell β-thalassemia, HbE β-thalassemia, HbD β-thalassemia, double heterozygous disorders (3). Thalassemia syndrome is estimated to be more than 200 million carriers of the β-thalassemia gene all over the world, 40 million of them are in India alone. According to World Health Orgazation (WHO), more than 40000 babies are born with thalassemia each year, of whom about 25,500 have transfusion-dependent thalassemias (4). The carrier rate for the β-thalassemia gene varies from 1% to 2% in Southern India, to 3-15% in northern India. Nearly 20 million people are affected in India by sickle cell anaemia. The term “sickle cell disease” includes all manifestations of abnormal HbS levels (proportion of HbS >50%). These include homozygous sickle cell disease (HbSS) and a range of mixed heterozygous haemoglobinopathies (HbS/β-thalassemia, HbSC disease) (5). Haemolysis is the premature destruction of RBCs. Anaemia results when the rate of destruction exceeds the capacity of the marrow to produce RBCs. Normal RBC survival time is 110-120 days (half-life is 55 to 60 days), and approximately 0.85% of most senescent RBCs are removed and replaced each day (6). The marrow can increase its output to 2 to 3 folds actually with a maximum of 6-8 fold in long-standing haemolysis. The erythroid hyperplasia resulting from chronic hemolytic anemia may so extensive that leads to extramedullary haematopoiesis and expansion of marrow spaces (7). Haemoglobinopathies usually present with severe pallor, jaundice, hepatosplenomegaly, and growth failure. Features suggestive of thalassaemia are thalassaemia facies, pathological bone fractures, and cachexia. Sickle cell anemia may be presented with pain due to vasooclusive crisis, dactilitis, cholecystitis, priapism, and acute splenic sequestration. Patients with β-thalassemia major have severe chronic hemolytic anaemia and require regular blood transfusions from early childhood with iron chelators (8).

These complications are caused by chronic anaemia, hypoxia, secondary to iron overload. The mortality in haemolytic anaemia is usually caused by cardiac complications (9). Common cardiac complications seen in these patients are congestive cardiac failure, cardiomyopathy, pulmonary hypertension, and arrhythmias (10). With the introduction of blood transfusions and chelation therapy, morbidity and mortality have been delayed to decade later (11). Though many studies are there regarding complications of haemoglobinopathies, this study gives special focus to cardiac complications. Early detection of cardiac involvement using echocardiography leads to the prompt initiation of aggressive chelation therapy during the early stages when the condition can still be reversed. This was the reason, special emphasis was given to echocardiography and serum ferritin's role in the detection of early cardiac complications. This study was mainly aimed at low-resource settings where cardiac Magnetic Resonance Imaging (MRI) is not available. By carrying out this survey many management requirements, including serum ferritin measurement, chelation therapy and echocardiography were met. Therefore, it is necessary to establish such services and prevent problems through cardiac screening.

The objective of this study was to

• To know the clinical profile of patients with abnormal haemoglobinopathy at the Hyderabad Paediatric Centre.
• Role of Echocardiography in diagnosing early cardiac complications.
• To find out the relationship between blood ferritin levels and cardiac function.

Material and Methods

This was a hospital-based, cross-sectional observational study conducted in Department of Paediatrics at Niloufer Hospital, Hyderabad, Telangana, India, from 2020 March to 2022 February. The Institutional Ethical Committee’s approval (ECR/300/inst/TN/2019/RR-16) and informed consent of parents was taken.

Sample size calculation: The sample size was calculated with prevalence based on previous studies with precision of 5% and type one error of 5% as 52 (mean prevalence of 3.5%) (12).

Inclusion criteria: This study included patients with abnormal haemoglobinopathy who received regular blood transfusions between the ages of 2 and 12 years. The diagnosis was confirmed clinically or by a laboratory that included a 2D ECHO.

Exclusion criteria: Patients with known cardiovascular complications or congenital heart disease, and patients or parents who do not consent to participate in the study were excluded from the study.


Variable measures are demographic data of the child, clinical features, laboratory changes, and 2D ECHO changes. Clinically, it is difficult to diagnose haemolytic anaemia in the younger age group. Hence, these patients need laboratory investigations for diagnosis and early detection of complications and their management for a better outcome.

Laboratory investigation: The diagnostic workup for haemoglobinopathies is based on based on systematic, step-by-step examinations including medical history, clinical features, red blood cell morphology, hematological indicators with increased reticulocyte count, and echocardiography of complication. If the underlying defect remains unexplained despite rigorous testing, a genetic diagnosis is needed (13).

Test to establish the specific cause of haemolytic anaemia

• Sickling test
• Haemoglobin electrophoresis: it is the confirmatory test to detect haemoglobin defects

Tests to detect complications due to disease and due to management of the disease

• Tests to detect Iron overload: Serum Iron and serum ferritin. Serum ferritin should be estimated once every 6 months. Iron chelation therapy is started if the levels are elevated above 1000 ng/mL (14). Serum ferritin greater than 2000 ng/mL or LIC greater than 15 mg/g dry weight was associated with an increased risk of complication and death. Serum ferritin remains an important predictor of survival but weakly correlates with the degree of cardiac siderosis (15).
• Tests to evaluate cardiac complications: Electrocardiogram (ECG), 2D Echocardiogram (2D Echo). The chest x-ray may show cardiomegaly.
• T2 weighted cardiac MRI is useful in assessing the severity of cardiac iron overload

Echocardiography is the most commonly used non-invasive technique for systolic and diastolic functions, ventricular size assessment, and evaluation for pulmonary arterial hypertension. Functional assessment and anatomic measurements by echocardiogram have been used to know the risk of cardiac iron load (16).

Statistical Analysis

Continues variables (quantitative) are analyzed calculating mean and standard deviation and performing T-test or Mann-Whitney test. Categorically (qualitative data) are analyzed by calculating by frequency and performing the Chi-square test and Fisher’s exact test. Statistical analysis was done by using Statistical Package for Social Sciences (SPSS) version 22.0 and Epi Info software for epidemiology developed by Centers for Disease Control and Prevention (CDC), United States of America. The p-value <0.05 was considered as statistically significant.


Total 68 patients who received blood transfusions were part of the research. The mean age of children with haemoglobinopathy was 4.8±2.86 years. There were 41 (60.30%) male and 27 (39.70%) female, with male:female ration of 1.51:1. Male were more affected by thalassaemia and sickle cell disease whereas, female were more affected by sickle thalassemia. The mean age of both sexes is not significantly different (p-value=0.6783). The mean age of children with different haemoglobinopathies was significantly different (p-value<0.05). Thalassaemia was predominant clinical disease 47 (69.1%) followed by sickle cell disease in 13 (19.1%) and sickle thalassaemia in 8 (11.8%) (Table/Fig 1).

Most of the children are from a rural area (75%; n-51). Parental consanguinity (2nd degree consanguineous) was observed in 33 (48.5%) of cases, and there was no difference in parental kinship between different abnormal haemoglobinopathies. Most of the children are having significant growth impairment in both weight (<3 perentile- 73.50%; n=50) and height (<3 perentile- 72.10%; n=49). Pallor with weakness was noted in all cases. About 27 (39.70%) of children had haemolytic facies predominantly in β-thalassemia (42%). Other features noted were icterus (28, 41.20%), joint pain (21, 30.90%), pain abdomen (20, 29.90%) and dactylitis (5, 7.4%). Cardiomegaly was noted in 4 (20.60%) of cases.

The predominant blood group observed was “O” (34, 50%) and Rh positive (67, 98.50%). Mean haemoglobin was similar in groups. Mean haemoglobin in sickle cell anaemia was 5.28 gm/dL, in sickle thalassemia was 5.53 gm/dL and in thalassaemia was 4.54 gm/dL. Median reticulocyte count was 3% with a range of 2% to 28%. All disease groups had microcytosis (98.50%) and hyperchromasia (97.10%) (Table/Fig 2), (Table/Fig 3). Sickle cells were noted in sickle cell disease and sickle thalassemia. Mean serum ferritin by disease group is depicted in (Table/Fig 4). Patients with serum ferritin >1000 mg/dL had more than 10 transfusions per year in 33 cases. Patients on Oral Chelation were 32.40% (n=22) and all received folic acid (Table/Fig 5).

In this study, 38 (56%) patients had tachycardia at admission, and ECG was abnormal in 25 (37%) of cases and normal in 43 (63%) cases. In the present study, 21 (24%) ferritin levels were normal, while 47 (76%) cases had serum ferritin levels above 1000 ng/dL. Right Ventricular Hypertrophy (RVH) was seen in a total of 6 (8.8%) patients, among these serum ferritin level was high in 4 (66%) and normal in 2 (33.3%). Whereas, 24 patients had Left Ventricular Hypertrophy (LVH) in echocardiography (Table/Fig 6). Of the 24 patients, 21 (87.5%) had serum ferritin levels above 1000 ng/dL. The ECHO was abnormal in 44 (65%) of patients, among these 27 (61%) of patients showed increased left ventricle mass/m2 in ECHO and 17 (39 %) had normal LV mass/m2. The mean ejection fraction in the study patients was 64.82% (Table/Fig 7). Pulmonary hypertension was observed in 17 (25%) of patients, and 42 (61.76%) patients showed mild tricuspid regurgitation.


Haemoglobinopathy is one of India’s major public health problems. Most common cause of mortality in these patients were cardiac complications.The structure and function of the heart in these patients is primarily affected by increased cardiac output and iron overload. Also, the deposition of iron in the myocardium mainly leads to a decline in left ventricular function. A continuous and holistic approach is needed to prevent them and succeed in fighting. In this study children with haemoglobinopathies attending a government teaching hospital were studied to know the clinical, laboratory, and cardiac complications at the time of admission. In the current study, males (60.30%) were more affected than females (39.70%), similar to other studies done by Usha BK (17). As 48.5% were born to consanguineous parents, the relatives of carriers should be screened and genetic counseling can prevent these births. Most of the children are from rural and tribal areas, their remoteness of living area contributes to infrequent medical care, follow-up, and complications.

Most of the children are found to have severe anaemia at admission and this explains the severe growth impairment. The mean age of the thalassemia group of children is significantly lower than the mean age of sickle cell disease and sickle thalassemia groups. The mean age of β-thalassemia (4.13 years) was significantly different from that of sickle β-thalassemia (6.92 years) and sickle cell disease (7.48 years). As most of the affected thalassemia children present in infancy at around 4-6 months of age, this finding was significant as these children were screened for thalassemia after the death of their elder siblings. Total 9 (14.1%) of these patients had a sibling who was affected with haemoglobinopathy. Mean haemoglobin values in the present study were sickle 5.28, 5.28 gm/dL in sickle cell disease, 5.53 gm/dL in sickle thalassemia, 4.54 gm/dL in β-thalassemia. Chronic, anaemia can cause growth retardation pulmonary hypertension.

Most of the children with haemolytic anaemia of different disease groups are having microcytic, hypochromic anaemia. In the present study, patients were further classified based on the serum ferritin value into those who had values more than 1000 ng/mL and the ones with less than 1000 ng/mL to know the extent of iron overload. Many children are showing elevated levels of serum ferritin, with a mean of 1481 ng/mL. Many patients are not in a position to get the serum ferritin levels monitored appropriately and need this test to be done as a free medical service. The thalassemia group of children received significantly more blood transfusions.

Serum ferritin values were compared with the chest X-ray, ECG, and echocardiography findings to know the relation between cardiac function and iron overload. Left Ventricular Hypertrophy (LVH) had occurred more frequently than Right Ventricular Hypertrophy (RVH) and was seen more in patients with serum ferritin >1000 mg/dL. Cardiomegaly was observed in 14 (21%) children and can be due to chronic anaemia and volume overload rather than iron overload alone. Echocardiography showed that 25%patients had mild pulmonary hypertension and 61% had increased LV mass. Similar findings were observed in a study done by Mohammad AM, and Koohi F et al., (18),(19). However, serum ferritin had a poor positive correlation with LV mass and pulmonary hypertension, hence it cannot be used as a single marker for cardiac iron load in transfusion dependant patients. An increase in LV mass and LV mass index is multifactorial includes chronic anaemia, tissue hypoxia, and iron overload. The ejection fraction was found to be mildly elevated than the normal values for age. Tissue doppler ECHO can able to identify systolic dysfunction even when left ventricular ejection fraction is still preserved (20).

Ibrahim MH et al., conducted a case-control study with 100 thalassemic patients below 18 years old to evaluate the value of tissue velocity imaging for early detection of myocardial dysfunction. Patients with thalassemia were found to have right and LV systolic dysfunction on the basis of abnormal myocardial velocities (21). Though T2 MRI is the gold standard in the diagnosis of cardiac iron deposition Echocardigraph still is used as a screening test (22). Various specific cardiological parameters have been assessed to find out the efficacy in identifying early myocardial iron overload in thalassemic, to prevent cardiac complications (23).

According to literature, the major cardiovascular disorders of sickle cell disease are pulmonary hypertension, left ventricular diastolic dysfunction, and hypoxic myocardial ischemia (24). Hypertrophy of the left ventricle in patients with sickle cell anaemia occurs significantly early and causes myocardial myopathy. The development of effective and inexpensive techniques for screening haemoglobin diseases is of great importance, especially in countries with high rates of these diseases (25).

Hence, echocardiography combined with an electrocardiogram should be used for regular periodic monitoring of transfusion-dependent thalassemia patients. There is a significant burden of haemoglobinopathies and need to prevent it by health education and counseling, avoiding consanguineous marriages, and prenatal detection for necessary intervention.


Because the majority of children come from rural or tribal areas that are far from residential areas, medical procedures and follow-up were not feasible. Echocardiographic changes should be compared to MRI and followed-up on on a regular basis. Community-level outcomes cannot be predicted because this was an institutional study. Another limitation of this study was the small sample size.


Thalassemia is the commonest haemoglobinopathy, followed by sickle cell disease. There is a possibility of reducing the disease burden by health education and avoiding parental consanguinity as almost half of the patients have parental consanguinity. Cardiac complications are common in patients with haemoglobinopathies due to chronic anaemia as well as transfusional iron load. Serial echocardiography is recommended to screen early discoveries of cardiac abnormalities in asymptomatic children and timely initiation of appropriate therapy. Though serum ferritin is useful to assess cardiac iron deposition, cardiac MRI which is considered as gold standard should be used.


Capriotti TM, Frizzell JP. Pathophysiology: Introductory concepts and clinical perspectives. FA Davis Company; 2015.
Piel FB. The present and future global burden of the inherited disorders of hemoglobin. Hematology/Oncology Clinics. 2016;30(2):327-41. [crossref] [PubMed]
Gupta P. PG textbook of PEDIATRICS. Second. Vol. 2. New Delhi, Delhi: Jaypee Brothers Medical Publishers (P) Ltd; 2018. Page 1851.
Kattamis A, Forni GL, Aydinok Y, Viprakasit V. Changing patterns in the epidemiology of β-thalassemia. Eur J Haematol. 2020;105(6):692-703. [crossref] [PubMed]
El-Sayed SAM, Hassan BA, Holil MA, Farid TM, Baraka AM. Study of Cardiac Abnormalities in Pediatric Patients with Sickle Cell Disease. IOSR Journal of Dental and Medical Scienc-es (IOSR-JDMS). 2017;16(8):53-58.
Marcdante K, Kliegman RM. Nelson Essentials of Pediatrics-E-Book: First South Asia Edition. Elsevier Health Sciences; 2016.
Jamwal M, Sharma P, Das R. Laboratory approach to hemolytic anemia. Indian J Pediatr. 2020;87(1):66-74. [crossref] [PubMed]
Nigam N, Kushwaha R, Yadav G, Singh PK, Gupta N, Singh B, et al. A demographic prevalence of β-Thalassemia carrier and other hemoglobinopathies in adolescent of Tharu population. J Family Med Prim Care. 2020;9(8):4305-10. [crossref] [PubMed]
Longo F, Corrieri P, Origa R, Barella S, Sanna PM, Bitti PP, et al. Changing patterns of thalassaemia in Italy: A WebThal perspective. Blood Transfusion. 2021;19(3):261.
Meloni A, Detterich J, Pepe A, Harmatz P, Coates TD, Wood JC. Pulmonary hypertension in well-transfused thalassemia major patients. Blood Cells Mol Dis. 2015;54(2):189-94. [crossref] [PubMed]
Pepe A, Meloni A, Rossi G, Cuccia L, D’Ascola GD, Santodirocco M, et al. Cardiac and hepatic iron and ejection fraction in thalassemia major: Multicentre prospective comparison of combined deferiprone and deferoxamine therapy against deferiprone or deferoxamine monotherapy. J Cardiovasc Magn Reson. 2013;15(1):1. [crossref] [PubMed]
Colah R, Italia K, Gorakshakar A. Burden of thalassemia in India: The road map for control. Pediatric Hematology Oncology Journal. 2017;2(4):79-84. [crossref]
Rets A, Clayton AL, Christensen RD, Agarwal AM. Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. Int J Lab Hematol. 2019;41(Suppl1):95-101. [crossref] [PubMed]
Lokeshwar MR, Sachdeva A, Shah NK, Manglani MV, Agarwal BR. Textbook of pediatric hematology and hemato-oncology. Jaypee Brothers Medical Publishers; 2016.
Ueda N, Takasawa K. Impact of inflammation on ferritin, hepcidin and the management of iron deficiency anemia in chronic kidney disease. Nutrients. 2018;10(9):1173. [crossref] [PubMed]
Angastiniotis M, Lobitz S. Thalassemias: An overview. Int J Neonatal Screen. 2019;5(1):16. [crossref] [PubMed]
Usha BK. Study of significance of echocardiography in thalassemia major/intermedia patients at tertiary care centre ICh&HC, Chennai (Doctoral dissertation, Madras Medical College, Chennai). The Tamil Nadu Dr. M.G.R. Medical University. 2016:01-122. Available from:
Mohammad AM. Echocardiographic evaluation of thalassemia intermedia patients in Duhok, Iraq. BMC cardiovascular disorders. 2014;14(1):01-07. [crossref] [PubMed]
Koohi F, Kazemi T, Miri-Moghaddam E. Cardiac complications and iron overload in beta thalassemia major patients-a systematic review and meta-analysis. Ann Hematol. 2019;98(6):1323-31. [crossref] [PubMed]
Rodrigues A, Guimarães-Filho FV, Braga JC, Rodrigues CS, Waib P, Fabron-Junior A, et al. Echocardiography in thalassemic patients on blood transfusions and chelation without heart failure. Arq Bras Cardiol. 2013;100:75-81. [crossref] [PubMed]
Ibrahim MH, Azab AA, Kamal NM, Salama MA, Ebrahim SA, Shahin AM, et al. Early detection of myocardial dysfunction in poorly treated pediatric thalassemia children and adolescents: Two Saudi centers experience. Ann Med Surg (Lond). 2016;9:06-11. [crossref] [PubMed]
Barbero U, Fornari F, Gagliardi M, Fava A, Giorgi M, Alunni G, et al. Myocardial longitudinal strain as the first herald of cardiac impairment in very early iron overload state: An echocardiography and biosusceptometry study on beta-thalassemia patients. J Am Coll Cardiol. 2021;11(5):555.
Narayana G, Ramagopal G, Sutay NR, Duggal B. Assessment of regional and global myocardial systolic function by 2D longitudinal speckle tracking in children with beta thalassemia major. J Clin Prev Cardiol. 2017;6(4):137. [crossref]
Allali S, Taylor M, Brice J, de Montalembert M. Chronic organ injuries in children with sickle cell disease. Haematologica. 2021;106(6):1535-44. [crossref] [PubMed]
Risoluti R, Colah R, Materazzi S. Editorial: Frontiers in Hemoglobinopathies: New Insights and Methods. Front Mol Biosci. 2021;8:632916. [crossref] [PubMed]

DOI and Others

DOI: 10.7860/JCDR/2022/56476.16507

Date of Submission: Mar 18, 2022
Date of Peer Review: Apr 18, 2022
Date of Acceptance: May 16, 2022
Date of Publishing: Jun 01, 2022

• Financial or Other Competing Interests: None
• Was Ethics Committee Approval obtained for this study? Yes
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. NA

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