Thalassemia major

Arockiya Jerlin1*, Booma.S2, Dhariniya3, Ruby Ravichandran4

1Staff Nurse, BMT, Maa Kauvery Hospital, Trichy

2Deputy Nursing Superintendent, Maa Kauvery Hospital, Trichy

3Nursing Educator, Maa Kauvery Hospital, Trichy

4Senior Deputy Nursing Superintendent, Maa Kauvery Hospital, Trichy.

*Correspondence 

Abstract 

Thalassemia major is a severe inherited hemoglobin disorder characterized by defective production of beta-globin chains, resulting in chronic severe anemia. Affected, children usually require regular blood transfusions to maintain adequate hemoglobin levels and support normal growth and development. Repeated transfusions can lead to iron overload, which may cause complications involving the heart, liver, and endocrine organs. Effective management includes regular blood transfusion, iron chelation therapy, monitoring and complications, nutritional support and appropriate nursing care. Hematopoietic stem cell transplantation may offer a potential curative treatment for suitable patient. Early continuous treatment, and comprehensive multidisplinary care are essential to improve quality of life and long-term outcome. 6-year-old child with Beta Thalassemia Major, who was diagnosed at 6 months of age during infancy. As the child had persistently low hemoglobin levels, regular blood transfusions were initiated. The child was receiving regular blood transfusions from 6months of age and continued to receive them regularly until the time of BMT.

Introduction 

Thalassemia major a severe, inherited blood disorder caused by defective production of beta globin chains of hemoglobin it leads to severe anemia, usually beginning in early childhood patients require regular blood Transfusions to maintain adequate hemoglobin levels. Repeated transfusions may cause iron overload requiring iron chelation therapy. Early diagnosis, proper treatment, regular monitoring and supportive nursing care are essential to improve the quality of life and survival of patients with Thalassemia major.

Diagnosis 

Thalassemia major

History 

6-year-old child with Beta Thalassemia major, diagnosed at 4 months of age during infancy was accurate for H&CT.  The child is the first born child of the family. The marriage non-consanguineous. There is no significant family history of thalassemia reported in the parents or other family members. The couple have second child,who was evaluated for thalassemia and was found to have no evidence of thalassemia major. The mother is currently pregnant again, and the present pregnancy was evaluated for fetal growth and development t and no evidence suggestive of thalassemia major reported so far. As the child had persistently low hemoglobin levels, regular blood transfusions were initiated. The child had been receiving regular blood transfusions from 4 months of age and continued to receive them regularly until the time of BMT.

Clinical findings 

On clinical examination, the child was conscious and clinically stable. Cardiovascular examination revealed normal S1 and S2 with no murmurs. Respiratory examination showed equal bilateral air entry with no added sounds. On abdominal examination, the abdomen was soft and bowel sounds were present. No other significant abnormal clinical findings were noted. HLA typing was performed for the child and the family members; however, no suitable HLA-matched donor was identified within the family. Therefore, an unrelated donor search was initiated through the donor registry. A fully matched unrelated donor was identified, and the child was subsequently planned for Bone Marrow Transplantation (BMT) with the matched donor.

Outcome

The patient remained hemodynamically stable with vital signs maintained within the normal range. Fluid balance was maintained, and no significant signs of fluid overload or dehydration were observed. The patient was monitored for infection and GVHD, with no major complications noted. Hematological parameters and organ functions were regularly monitored and managed appropriately. Medications were administered safely without significant adverse effects. Adequate nutrition and hydration were maintained. The patient received emotional support and demonstrated improved coping with the treatment. The patient and family understood the treatment plan, infection-prevention measures, and necessary home care.

Nursing management 

The patient was comprehensively assessed and closely monitored, including regular monitoring of vital signs and PEWS. Daily weight and fluid balance were monitored to detect early signs of fluid overload or dehydration. Regular assessments were performed for signs of infection and Graft-Versus-Host Disease (GVHD). Hematological parameters such as hemoglobin, platelet count, and WBC count were monitored, along with organ functions. Infection prevention and control measures were strictly followed. Medications were administered as prescribed, and the patient was monitored for therapeutic effects and adverse reactions. Adequate nutrition and hydration support were provided. Psychological and emotional support was given to the patient throughout the treatment. The family was educated regarding the patient’s condition, treatment, infection prevention, and necessary supportive care, and appropriate family support was provided.

Discharge 

The baby underwent hematopoietic stem cell transplantation for Thalassemia major.post transplant, the patient was monitored for engraftment, infection. GVHD, and other complications supportive treatment, medication. blood products and nutritional care were provided as required. The patient showed clinical improvement and achieved, stable blood counts. At the time of discharge, the patient was clinically stable and adviced regular follow up with the BMT team, continuation of discharge adviced medications infection prevention measures, and monitoring, of blood counts.

Conclusion 

Stem cell transplantation is a potentially curative   treatment for thalassemia major. I can reduce or eliminate the need for regular blood transfusion and Iron chelation therapy. With proper post-transplant care, monitoring, complications, patients can achieve improved quality and health.

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