Offer for Students ₹ 999 INR ( offer valid till 31st December 2025)
8. Beta Thalassemia in Children A Comprehensive Review
Authors:
GEORGE KINGSTAR ALENSIF RIYA, RAJAPAUL VILASINI JELINA, GOPAN SELVAPRABHA JEMISHA,SARIN SINGH AJITHA AKSHA SHARON , DURAISAMY JEBAMANI SEKAR SELWYNDURAI MANO JEBADURAI,ALIMOVA NURGUL ABDYASHYMOVNA
( International Medical Faculty, Osh State University, Osh, Kyrgyzstan )
Beta thalassemia is a hereditary hemoglobinopathy characterized by reduced or absent synthesis of beta globin chains of hemoglobin.
It is one of the most common genetic disorders worldwide and represents a significant cause of morbidity and mortality in children.
The disease manifests early in life and requires long-term medical care. Advances in transfusion medicine, iron chelation,
and stem cell transplantation have significantly improved survival and quality of life.
Beta thalassemia was first described in the early 20th century by Thomas Cooley. Since then, extensive research has clarified
its genetic basis, pathophysiology, and clinical management. The condition is now recognized as a major public health problem
in many developing countries.
Beta thalassemia is caused by mutations in the HBB gene located on chromosome 11. More than 200 mutations have been identified,
including point mutations, deletions, and insertions. These mutations impair beta globin chain production, resulting in either
b (no synthesis) or b (reduced synthesis) thalassemia. The disorder follows an autosomal recessive
inheritance pattern.
Globally, approximately 1.5% of the population are carriers of beta thalassemia. The disease is most prevalent in the
Mediterranean region, Middle East, Indian subcontinent, Southeast Asia, and Africa. Migration has increased the incidence in
previously non-endemic regions.
Reduced beta globin synthesis leads to excess unpaired alpha globin chains that precipitate within erythroid precursors.
This causes ineffective erythropoiesis and intramedullary destruction of red cells. Chronic anemia
stimulates erythropoietin
production, leading to bone marrow expansion and extramedullary hematopoiesis. Increased intestinal iron absorption and
repeated transfusions result in iron overload.
Children with beta thalassemia major present within the first year of life with severe anemia, pallor, failure to thrive,
recurrent infections, hepatosplenomegaly, and jaundice. Progressive skeletal deformities occur due to marrow expansion.
Growth retardation and delayed puberty are common.
Complete blood count reveals severe microcytic hypochromic anemia. Peripheral smear shows target cells, nucleated RBCs,
and anisopoikilocytosis. Hemoglobin electrophoresis demonstrates markedly elevated HbF and reduced or absent HbA.
Iron studies reveal elevated serum ferritin.
X- ray skull may show a 'hair-on-end' appearance due to marrow expansion. MRI T2* is used to assess cardiac and hepatic iron
overload. Molecular testing confirms the diagnosis and is essential for prenatal screening.
Conditions to be differentiated include iron deficiency anemia, sideroblastic anemia, lead poisoning, and other hemoglobinopathies such as sickle cell disease.
The goals of management are to correct anemia, suppress ineffective erythropoiesis, prevent iron overload,
and manage complications. Treatment requires a multidisciplinary approach and lifelong follow-up.
Regular packed red cell transfusions are initiated early in life. The aim is to maintain pre-transfusion hemoglobin levels
above 9–10 g/dL to prevent growth failure and skeletal deformities.
Iron chelation is started after 10–20 transfusions or when serum ferritin exceeds 1000 ng/mL. Chelating agents include deferoxamine, deferasirox, and deferiprone. Compliance is critical to prevent iron-induced organ damage.
Stem cell transplantation is currently the only curative therapy. Best outcomes are seen in young children with an
HLA-matched sibling donor. Advances in conditioning regimens have improved success rates.
Splenectomy may be indicated in cases of hypersplenism or increased transfusion requirements. Patients require vaccination and lifelong infection prophylaxis.
Major complications include iron overload leading to cardiomyopathy, liver cirrhosis, diabetes mellitus, hypogonadism, osteoporosis, and increased susceptibility to infections.
Chronic illness impacts psychological well-being, education, and social development. Counseling and psychosocial
support are essential components of care.
Carrier screening, premarital counseling, prenatal diagnosis, and public health education are key strategies
to reduce disease incidence.
With optimal transfusion and chelation therapy, survival into adulthood is now common. Cardiac complications remain the leading cause of mortality.
Gene therapy and gene editing techniques are emerging as promising therapeutic options, offering hope for definitive cure without transplantation.
Beta thalassemia in children is a chronic inherited disorder requiring early diagnosis and comprehensive management.
Advances in medical care have significantly improved outcomes, but prevention remains the most effective strategy.
1. Hoffbrand AV, Moss PAH. Essential Haematology.
2. Weatherall DJ, Clegg JB. The Thalassaemia Syndromes.
3. Nelson Textbook of Pediatrics.
4. WHO. Management of Haemoglobin Disorders.
5. Thalassaemia International Federation Guidelines.
6. Cappellini MD et al. Guidelines for Transfusion Dependent Thalassemia.
