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 Table of Contents  
Year : 2017  |  Volume : 2  |  Issue : 2  |  Page : 69-74

Strategies for enhancing quality of life in thalassemic children

1 Department of Child Health Nursing, BLDEA's Shri BM Patil Institute of Nursing Sciences, Vijayapur, Karnataka, India
2 SVIMS College of Nursing, Tirupati, Andhra Pradesh, India

Date of Submission30-Jun-2017
Date of Acceptance26-Sep-2017
Date of Web Publication15-Dec-2017

Correspondence Address:
Dr. K Kavitha
Department of Child Health Nursing, BLDEA's Shri BM Patil Institute of Nursing Sciences, Vijayapur, Karnataka - 586 103
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/bjhs.bjhs_17_17

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Thalassemia is an autosomal recessive disorder characterized by the reduction or absence in the synthesis of the globin chains of hemoglobin. Worldwide, approximately 15 million people are estimated to suffer from this disease and 300 million carriers born every year. The carrier rate for β-thalassemia varies from 1% to 17% in India. The prevalence is very high among certain communities and is emerging as a major public health problem in India but received little attention. Due to the chronic nature of the disease, thalassemic children need long-term treatments such as blood transfusions and chelation therapy. Hence, these children need repeated hospitalization, forgo schooling, and cannot perform day-to-day activities including play. This may affect the quality of life (QoL) in these children. The nursing strategies for enhancing QoL include providing a network of care, supportive strategies, positive coping mechanism, ongoing assessment, prevention of complications, and empowering the children with thalassemia and their parents. The future hopes are unrelated cord blood stem cells, gene therapy. To conclude, a comprehensive approach toward the care of children with thalassemia can increase the level of QoL among these children. The review search was done through Google engine, PubMed as well as scholarly articles from printed journals, and books.

Keywords: Enhancing, quality of life, thalassemia

How to cite this article:
Kavitha K, Padmaja A. Strategies for enhancing quality of life in thalassemic children. BLDE Univ J Health Sci 2017;2:69-74

How to cite this URL:
Kavitha K, Padmaja A. Strategies for enhancing quality of life in thalassemic children. BLDE Univ J Health Sci [serial online] 2017 [cited 2023 Mar 24];2:69-74. Available from: https://www.bldeujournalhs.in/text.asp?2017/2/2/69/220937

The normal growth and developmental milestones of children's life are sometimes hampered by innumerous diseases. These diseases may be acquired during life or inherited. One of such inherited disease is Thalassemia. The disease was first noted in the Mediterranean population, hence, it got the name. The name Thalassemia is derived from two Greek words Thalassa = Sea” and “Haemia = Blood” in reference to anemia of the sea.[1] In the year 1925, two American pediatricians Cooley and Lee detected this disease in children of Italian and Greek immigration. Hence, it is also called as Cooley's anemia.[2] Thalassemia refers to genetic disorders in globin chain production. Thalassemia is a spectrum of diseases characterized by the reduction or absence in the synthesis of the globin chains of hemoglobin (Hb). It is an autosomal recessive disorder with varying expressivity.[3] Based on the type of affected globin chain, thalassemia is classified into: Alpha thalassemia (caused by reduced or absent production of α-globin chain); Beta-thalassemia (caused by reduced or absent production of β-globin chain) and Hb E-beta thalassemia (Hb E/β-thalassemia-combination of beta-thalassemia with abnormal Hb or structural Hb variant with thalassemic properties).[4] There are more than 200 mutations for β thalassemia, although most are rare. About 20 common alleles constitute 80% of the known thalassemia worldwide, and in Southeast Asia, 5%–10% of the population carry genes for α-thalassemia.[5]

Worldwide, approximately 15 million people are estimated to suffer from thalassemic disorders.[6] Reportedly, approximately 300 million thalassemia carriers are born worldwide, i.e., 1.5% of world population; out of this 10% of thalassemia cases are born in India every year. In India alone, the number is approximately 30 million with 505 million in Southeast Asia.[7]

The first recorded case of thalassemia was found in India in 1938 on the east side of Suez in a Hindu boy aged 30 months. It was the first known case of thalassemia outside the Mediterranean region.[3]

The burden of hemoglobinopathies in India is high and nearly 12,000 infants being born every year with a severe form of hemoglobinopathies. These numbers imply that every hour 1 child is born who will suffer with this genetic disorder. The carrier rate for β-thalassemia varies from 3 to 17% in India with an average of 3.2%. This means that on an average 1 in every 25 Indians is a carrier of thalassemia. The distribution of the thalassemia gene is not uniform in India and the prevalence is very high among certain communities such as Sindhis and Punjabis from Northern India, Bhanushalis, Kutchis, Lohanas from Gujarat, Mahars, Neobuddhists, Kolis and Agris from Maharashtra, Gowdas and Lingayats from Karnataka as well as certain tribes in the northern, western and eastern parts, with lower incidence in the southern tribes. There is a genetic, ethnic and regional diversity of the Hb variants as well as of the genetic mutations in India.[7]

From the above scenario, it is verily understood that thalassemia is emerging as a major public health problem among pediatric population in India but received little attention due to other priorities such as communicable diseases and malnutrition.

The clinical manifestations of thalassemia usually depend on the type of mutation along with primary, secondary and tertiary modifiers. Baby born with α-thalassemia will not survive in general whereas children with α-thalassemia intermedia mostly asymptomatic or may have episodes of severe hemolytic anemia. The children with trait or carrier state usually will be asymptomatic and can be detected through gene analysis.[8]

Children with β-thalassemia major usually become symptomatic by about 4–6 months of life after birth. If these children did not get diagnosed early and started treatment on time, without transfusion support, they may develop progressive anemia which eventually leads to decreased growth and development, heart failure and premature death. Moreover, without transfusion, very few children survive beyond 5 years of age. In case of β-thalassemia intermedia, children suffer with moderate to severe anemia and other health problems such as bone deformities and splenomegaly as like α-thalassemic trait, β-trait will be asymptomatic or may have mild anemia.[1],[9] In case of Hb/E disease, children will be asymptomatic at birth but gradually develop anemia after few months of life. Other associated features of Hb/E disease include the development of mass in the left upper quadrant, chronic leg ulcers, and absence of secondary sexual characteristics.[10]

Overall, thalassemia is a lifetime disease with crippling health problems which eventually affect the normal growth and development of children who are suffering with this disorder.

Borgne et al., (2005) found that 50% of the thalassemic patients in the UK died before the age of 35. At that age, 65% of the patients from an Italian long-term study were still alive. Heart disease is responsible for more than half of the deaths. The prevalence of complications in Italian patients born after 1970 includes heart failure in 7%, hypogonadism in 55%, hypothyroidism in 11%, and diabetes in 6%. Similar data were reported in patients from the United States.[9]

Because of the chronic illness, it becomes mandatory for the children with thalassemia to be on long-term treatment which includes lifelong periodic blood transfusions as necessary, elimination of transfused iron and management of complications related to iron overload. For which the children need to be hospitalized repeatedly, forgo schooling and cannot perform day-to-day activities including play as like other children of their same age group. This may endanger the quality of life (QoL) of children suffering with thalassemia.

Kaheni et al. indicated that the QoL of children with thalassemia in dimensions of physical, psychological, and environmental health was above average, but in the dimension of social relationships, QoL was below average.[11] Further, Devarshi et al. noted that there was a significant difference of QoL between thalassemia children and control group.[12]

In this context, QoL refers to the perceived quality of an individual's daily life, that is, an assessment of their well-being or lack thereof. This includes all emotional, social, and physical aspects of the individual's life. In healthcare, health-related QoL (HRQoL) is an assessment of how the individual's well-being may be affected over time by disease, disability or disorder.[13]

  Factors Affecting Quality of Life in Thalassemic Children Top

  1. Physical factors such as family history of thalassemia, age at onset of anemia, supportive therapies, maintaining pretransfusion level of Hb
  2. Mental/emotional factors such as chronic nature of disease, age-specific challenges, and anxiety/depression and ineffective coping mechanism
  3. Social factors such as isolation and poor socioeconomic conditions
  4. Factors affecting school function may include frequently absent from school, poor academic performance, and insufficient knowledge of teachers about illness and inability of teachers to spend adequate time with chronically ill children.[14]

  Tools for Assessment of Quality of Life in Thalassemic Children Top

There is no specific tool for assessing QoL of children with thalassemia. However, most of the researchers used the following tools in their studies:

  • CDC HRQoL-14 Questionnaire
  • Short-Form Health Survey (SF-36, SF-12, SF-8)
  • Manchester Short Assessment of QoL: 16 item questionnaire
  • World Health Organization-BREF (WHOQoL)-BR
  • PedsQL (4.0) Inventory.

Among which, PedsQL (4.0) Inventory is commonly used since it is more age specific, also available in various languages.[15]

  Comprehensive Care for Enhancing Quality of Life among Thalassemic Children Top


A network of care for thalassemic children

Can be achieved through the following:

  • Providing a high standard of care that is delivered by specialist centers
  • Ensuring that patient receive regular treatment that is convenient and easily accessible with minimal disturbance
  • Focusing on excellent routine care including prevention and appropriate management of complications to reduce morbidity and mortality.[16]

The first center for care of thalassemia started in Mumbai at JJ Hospital and KEM Hospital in 1970s. However, The Preeti Tuli Thalassemia center at sir GangaRam Hospital was the first dedicated center started in 1994 as a free daycare clinic with multiple specialists and routine use of filters during transfusions. At present, the majority of corporate hospitals and tertiary centers are running thalassemia clinics and also have separate thalassemia wards.[17]

Lifelong education and communication between family and health team members:

  1. Patients and family members should be educated, supported and treated in age-appropriate ways
  2. Patients and families should work together with a multidisciplinary team to optimize their care
  3. Accurate and effective communication with family and health professionals should be maintained.[16]

Treatment modalities

Blood transfusion, chelation, bone marrow transplantation (BMT), gene therapy.

Blood transfusion

Regular lifelong blood transfusion, to compensate for damaged red blood cells is needed and is the main mode of management in this condition. The current recommendation is to maintain a mean Hb level of 12 g/dl and Thalassemia International Federation insists that pretransfusion level of Hb should be 9-10.5 g/dl. Maintaining this standard can help for bone marrow suppression and low iron accumulation. Care should be taken that posttransfusion level of Hb should not exceed 15 g/dl. Complications include iron overload which results in hemochromatosis and Hemosiderosis, hemolytic reaction, and chances for transmission of HIV, Hepatitis B and C infections.[1],[16],[18]

Chelation therapy

Indicated to remove the excess iron from the body which is accumulated due to repeated blood transfusion. The optimal time for starting Chelation therapy is not clear, but experts suggest that it should be initiated when the serum ferritin level exceeds 100 ng/dl, the child had blood transfusion more than 15–20 times or hepatic iron concentration increases more than 3.2 mg/kg body weight.

The drugs commonly used in chelation therapy include (i) injection Desferrioxamine, administered through SC/IV infusion. The dosage depends upon the serum ferritin level with the maximum dosage of 100 mg/kg/day. (ii) Deferiprone an oral iron chelator widely used in India in patients not responding to Desferrioxamine as second-line drug or in some cases as the first-line drug. The optimal dose of Deferiprone is 75 mg/kg/day given in divided doses. In some cases, combined therapy with both Desferrioxamine and Deferiprone may be needed to reduce the iron overload of cardiac muscles. (iii) Deferasirox is the newer drug available in oral form and administered once a day. The dosage depends on the iron overload. Common side effects of iron chelators include GI symptoms, agranulocytosis, and renal insufficiency.[1],[18]

Bone marrow transplantation

Is alternate for lifelong blood transfusion, cures thalassemia, and no need for chelation therapy. Replacement of bone marrow stem cells with normal fully human leukocyte antigen (HLA)-matched hematopoietic stem cells will correct the underlining defect and thus offers a complete cure. Source of stem cells from sibling donor has much better results. Any child who is between 2 and 5 years of age, well chelated and has fully matched sibling donor is best suited for BMT. But, unfortunately getting an HLA matching sibling donor is a cumbersome task. Furthermore, there is a risk of complications such graft versus Host disease, infection, however, the use of cyclosporine and aseptic techniques drastically reduced the rate of infection.[18],[19] With the improvement in conditioning regimen and management of graft versus host disease, the long-term results of BMT have improved significantly.

Gene therapy

A number of major discoveries and technical advances in gene therapy provide hope for the treatment of hemoglobinopathies. In 1987, Frank et al. discovered the master regulator the β-globin gene family, known as the locus control region (LCR). It was found that linking the LCR to a β globin gene enables the gene to efficiently and reproducibly switch on to produce a sufficient level γ globin.[18]

In gene therapy, stem cells and progenitor cells are collected from the bone marrow of a patient with β-thalassemia following cytokine mobilization. After purification, the hematopoietic stem cells (HSCs) are maintained in culture for 34 h. Lentiviral vector particles containing a functional β-globin gene are added, and culture is continued for another 18 h. Meanwhile, the patient undergoes chemotherapy to eradicate the remaining HSCs and make room for the genetically modified cells. The transduced HSCs are then transplanted into the patient by infusion into a peripheral vein.[20]

Stem and progenitor cells are to be harvested from patient bone marrow or peripheral blood following cytokine mobilization, purified by immunoselection, transduced and returned to the patient. Various types of vectors have been considered for gene transfer into stem cells, with integrating retroviruses being the leading candidate. Recently, one participant in an ongoing gene transfer trial for severe β-thalassemia has achieved clinical benefit with elimination of his transfusion requirement


Preferred only in cases of hyperspleenism. Postoperative complications are more in these children, for example, thrombocytosis and embolism. Neutropenia results in recurrent infections.[1],[21]

In a prospective study by Bhosale et al. on the impact of splenectomy on QoL among thalassemic children revealed that the transfusion requirement of children who underwent splenectomy remains low as compared to the preoperative value of 200–350 cc/kg/year. It is noted that frequency of Hb drop has decreased, and the Hb levels are maintained at a higher range >8 g%, transfusion requirement has decreased, and interval has increased from 10 to 20–30 days. The average QoL Index increased from the preoperative level of 13.5-17.8 at a follow-up of 2-years, indicating improvement in health status following splenectomy.[21]

Alternative treatment modalities

Various measures have been tried to induce fetal Hb production: (i) Administration of 5-Azacytidine was thought to activate production of fetal Hb. However, later, it was found that this drug has carcinogenic effect and was stopped due to its clinical inappropriateness. (ii) Short chain fatty acids such as Isobutyramide is an another measure considered to be effective for fetal Hb production. (iii) Erythropoietin administration is known to have activation of fetal Hb and is used in the management of thalassemia intermedia. (iv) The use of hydroxyurea causes depletion of erythroid marrow and proliferation of γ chain.[18]

Indigenous therapy

In the study by Marwah et al., the clients consumed 100 ml of wheatgrass juice daily. Each client acted as his own control. Of the 16 cases analyzed, blood transfusion requirement fell by >25% in 8 patients, with a decrease of >40% documented in three of these cases. However, in a similar study by Choudry et al. did not find any significant benefit from its use.[23]

Psychosocial support

  • Help patients and families to cope up with the changing social and psychological aspects of living and growing up with thalassemia
  • Ensure patient's emotional well-being.[16]

Prevention of complications

  • Optimal iron chelation therapy
  • Early detection and prompt management of complications
  • Regular follow-up care.[16]

Transitional care

  • There should be a continuity of care of thalassemic children after discharge from the hospital and until the children and their parents develop the ability to manage themselves.

  Existing Shortcomings in Management of Thalassemia Top

Blood transfusion

Currently, there are about 7000 blood banks available in India. Out of that 36% are in the Govt. sector, 14.4% are managed by voluntary agencies, 28.8% are private, and 20.7% are charitable. According to a 2012 WHO report, only nine million units are collected annually, while the need is for 12 million units.

Despite being a country with a population of 1.2 billion, India faces a blood shortage of 3 million units.[22]

Iron chelation therapy

Noncompliance due to its adverse effects and financial burden is the main issue. Rakholia and Chaturvedi noted that to get an ideal treatment for one thalassemic child, it costs around Rs. 1, 25,000/annum. Hence for 50,000 children, the cost would be nearly Rs. 620 Crores. This staggering cost is beyond the reach of our country; moreover, this cost is expected to increase due to additional children being born every year.[24]

Bone marrow transplantation

Cost of the BMT is very expensive, and majority of the client cannot afford for it. The second issue is getting HLA-matched sibling donor. In addition, treatment-related complications play a major role in outcome of this procedure.[18]


Children who underwent splenectomy often hospitalized with recurrent infections.[21]

Strategies to improve the situation

Acceleration of preventive measures such as genetic counseling, avoiding consanguineous marriage, premarital screening for carrier state, and prenatal screening can help to reduce the incidence of thalassemia.[25]

  Nursing Measures for Enhancing Quality of Life of Thalassemic Children Top

Nursing measures for improving the QoL among children with thalassemia as well as their family members can be planned, implemented, and evaluated through “SCOPE Strategies.”

Supportive strategies

Include financial support, social support, nutritional support as well as psychological support.

  • Nurses can help the parents to approach voluntary agencies for obtaining financial support for getting necessary supplies such as blood and iron chelators
  • Social support: Self-help group can be created among parents of thalassemic children
  • Nutritional support: health education on nutritional diet, supplementation of Vitamin C is essential.

Coping mechanisms

  • Provide opportunities to ask questions and share concern
  • Acceptance of current status of child
  • Providing necessary informing about Thalassemia
  • Maintaining mental health
  • Spirituality.[26]

Ongoing assessment and periodic monitoring

Physical assessment, nutritional assessment, monitoring of serum ferritin and Hb levels, regular dental check-up growth, and developmental assessment.

Prevention of complications

Prompt management of acute symptoms, vaccinations as per schedule, prophylactic antibiotics as necessary and monitoring of child for compliance with chelation therapy.

Empowerment of thalassemic children and their parents

The children and their parents can be empowered by:

  • Asking questions, understanding patients and parents fears, concerns and priorities
  • Listening to their responses
  • Educating and supporting patients for ongoing self-management.[25]

  Prognosis Top

The prognosis and survival of thalassemia depend on the severity of the disease. For people with β-thalassemia minor or α-thalassemia minor life expectancy is normal. Life expectancy of patients with thalassemia major has significantly increased in recent years. However, complications are still frequent and affect the patients' QoL.[27]

  Future Hopes for Quality of Life among Thalassemic Children Top

QoL can be enhanced by free supply of blood and iron chelators to children suffering with thalassemia which can substantially reduce the financial burden of parents. Ongoing research on unrelated cord blood transfusion for management of thalassemia is another promising hope. Gene therapy may play vital role.

  Conclusion Top

Given the nature of disease condition, costlier management strategies, and their impact QoL of children suffering with thalassemia is not satisfactory when compared to the normal children of the same age group. Hence, nurses caring for this specific group should play main role in improving and sustaining their QoL. A comprehensive approach toward care of children with thalassemia can increase the level of QoL among these children.


We would like to acknowledge the inputs of Dr. Manju Vatsa, Dr. Reddamma and Dr. Punitha Ezhilarasu for our intended work.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

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