Journal of Paediatric Medicine & Surgery
Open Access

Pediatric hematology; Iron deficiency anemia; Sickle cell disease; Thalassemia; Hemophilia; Leukemia; Bone marrow failure; Platelet disorders; Blood transfusion; Hematopoietic stem cell transplantation

Introduction

Blood disorders in children encompass a wide array of conditions affecting red cells, white cells, platelets, and the coagulation cascade. Pediatric hematology aims to diagnose, monitor, and treat these conditions through a combination of clinical evaluation, laboratory testing, and targeted therapies. Early diagnosis and intervention are essential to prevent complications and support normal growth and development. While some hematologic diseases are acquired, many are inherited and may require lifelong management [1]. Advances in molecular diagnostics, gene therapy, and bone marrow transplantation have significantly improved outcomes in pediatric hematology [2].

Description

Among the most prevalent conditions is iron deficiency anemia, typically resulting from inadequate dietary intake, chronic blood loss, or malabsorption. It presents with pallor, fatigue, and developmental delay. Diagnosis is confirmed by low serum ferritin and hemoglobin, and treatment includes oral or intravenous iron supplementation [3]. Sickle cell disease (SCD) is an inherited hemoglobinopathy caused by a mutation in the β-globin gene, leading to hemolytic anemia and vaso-occlusive episodes. It affects multiple organ systems and increases susceptibility to infections. Prophylactic penicillin, hydroxyurea therapy, and vaccination have reduced morbidity and mortality significantly [4].

Thalassemia, another group of inherited hemoglobin disorders, is prevalent in certain ethnic populations. Beta-thalassemia major requires regular red blood cell transfusions and iron chelation therapy. Advances in chelation agents and prenatal screening programs have improved prognosis [5]. Hemophilia A and B, X-linked bleeding disorders caused by deficiencies in clotting factors VIII and IX, respectively, present with spontaneous bleeding into joints and muscles. Management has shifted from on-demand to prophylactic factor replacement, with newer long-acting recombinant products and gene therapy under development [6].

Leukemia, particularly acute lymphoblastic leukemia (ALL), is the most common pediatric cancer. Multi-agent chemotherapy protocols have led to cure rates exceeding 85%. Risk stratification based on genetic and molecular markers helps personalize treatment and reduce toxicity [7]. Other important conditions include immune thrombocytopenic purpura (ITP), aplastic anemia, and Langerhans cell histiocytosis, each requiring tailored diagnostic and therapeutic approaches. Hematopoietic stem cell transplantation (HSCT) is curative in many cases of marrow failure syndromes and high-risk leukemias [8].

Results

Early screening for hemoglobinopathies, newborn heel-prick tests, and widespread vaccination have improved early detection and prevention of complications in children with hematologic disorders. For instance, implementation of hydroxyurea therapy in SCD has led to reductions in hospitalizations and improved quality of life [9]. Hemophilia prophylaxis has been associated with decreased bleeding episodes and preserved joint function. Advances in supportive care, infection control, and transfusion safety have further enhanced survival in pediatric leukemia and bone marrow disorders [10].

Discussion

Long-term management of pediatric hematologic disorders requires coordinated care involving hematologists, nurses, physiotherapists, psychologists, and social workers. Chronic transfusion therapy in thalassemia and SCD demands rigorous monitoring to avoid iron overload and alloimmunization. The development of oral iron chelators and non-invasive iron assessment (e.g., MRI T2*) has transformed care delivery [4]. Psychosocial factors, including school absenteeism, peer relationships, and caregiver burden, play a significant role in disease outcomes. Comprehensive care centers that provide psychological support and transition programs for adolescents moving into adult care have shown improved adherence and outcomes. Emerging therapies, such as gene editing technologies (e.g., CRISPR-Cas9) and lentiviral vector-based gene therapy, offer the potential for curative interventions in hemoglobinopathies. However, challenges such as cost, accessibility, and long-term safety need to be addressed through global health equity initiatives [7].

Conclusion

Pediatric hematology has made significant strides in the diagnosis and management of blood disorders in children. With continued innovations in therapeutics and supportive care, many conditions that were once fatal are now manageable or curable. Multidisciplinary care, patient education, and research into emerging therapies will remain central to improving outcomes and enhancing the quality of life for pediatric patients with hematologic conditions.