How to Diagnose Pediatric Anemia: A Step-by-Step Guide

Pediatric Anemia: A Comprehensive Review of Diagnosis and Treatment

Anemia in pediatric populations is a significant global health concern, affecting over 40% of children under the age of five in many regions. It is not merely a deficiency of hemoglobin but a clinical syndrome with multifactorial etiologies, including nutritional deficiencies, genetic disorders, and chronic diseases. Pediatric anemia impacts physical growth, cognitive development, and overall health, making early diagnosis and effective treatment crucial. This comprehensive review explores the causes, diagnostic approaches, and treatment strategies for pediatric anemia, providing essential insights for medical students and doctors.

1. Understanding Pediatric Anemia
Definition
Pediatric anemia is defined as a reduction in the hemoglobin concentration below the normal range for a child’s age and sex.

Normal Hemoglobin Levels

• Newborns: 14-24 g/dL
• Infants (2 months): 9-14 g/dL
• Children (6 months to 5 years): 11-14 g/dL
• Older children: 12-16 g/dL

Classification of Pediatric Anemia
1. Based on Morphology:

• Microcytic: Iron-deficiency anemia, thalassemia.
• Normocytic: Anemia of chronic disease, hemolysis.
• Macrocytic: Vitamin B12 or folate deficiency.

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2. Based on Etiology:

• Nutritional: Deficiency of iron, folate, or vitamin B12.
• Hemolytic: Sickle cell anemia, hereditary spherocytosis.
• Bone Marrow Failure: Aplastic anemia, leukemia.
• Chronic Diseases: Chronic kidney disease, infections.

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2. Causes of Pediatric Anemia
1. Nutritional Deficiencies

• Iron Deficiency: The most common cause, often due to inadequate dietary intake or malabsorption.
• Folate Deficiency: Common in children with poor diets or malabsorption syndromes.
• Vitamin B12 Deficiency: Less common but may occur in exclusively breastfed infants of vegetarian mothers.

2. Genetic Disorders

• Sickle Cell Anemia: Autosomal recessive disorder causing abnormally shaped red blood cells prone to hemolysis.
• Thalassemia: Genetic mutations leading to defective hemoglobin synthesis.

3. Hemolytic Causes

• Hereditary Spherocytosis: Defect in red blood cell membrane proteins causing premature destruction.
• G6PD Deficiency: Enzymatic defect leading to hemolysis during oxidative stress.

4. Bone Marrow Disorders

• Aplastic Anemia: Bone marrow failure causing pancytopenia.
• Leukemia: Malignant infiltration of bone marrow.

5. Chronic Diseases

• Chronic infections, inflammatory conditions, and kidney diseases contribute to anemia of chronic disease.

3. Clinical Presentation
General Symptoms

• Fatigue, pallor, and irritability.
• Shortness of breath and tachycardia.
• Poor appetite and growth retardation.

Specific Symptoms

• Iron-Deficiency Anemia: Pica (craving for non-nutritive substances like dirt or ice), spoon-shaped nails.
• Hemolytic Anemia: Jaundice, dark urine, splenomegaly.
• Vitamin B12 Deficiency: Glossitis, neuropathy, developmental delays.

4. Diagnostic Approach
Step 1: Clinical History

• Dietary history: Assess intake of iron-rich foods.
• Family history: Look for genetic conditions like sickle cell disease or thalassemia.
• History of chronic illnesses or infections.

Step 2: Physical Examination

• Pallor (best observed in conjunctiva, palms, or nail beds).
• Jaundice, hepatosplenomegaly, or lymphadenopathy.
• Growth parameters and developmental milestones.

Step 3: Laboratory Investigations
1. Complete Blood Count (CBC):

• Hemoglobin level, mean corpuscular volume (MCV), and red cell distribution width (RDW).

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2. Peripheral Blood Smear:

• Microcytic Hypochromic: Suggestive of iron deficiency or thalassemia.
• Normocytic Normochromic: Seen in anemia of chronic disease.
• Macrocytic: Indicates folate or B12 deficiency.

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3. Iron Studies:

• Serum ferritin, transferrin saturation, and total iron-binding capacity (TIBC).

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4. Hemoglobin Electrophoresis:

• For diagnosing hemoglobinopathies like sickle cell anemia or thalassemia.

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5. Bone Marrow Examination:

• Reserved for cases of suspected leukemia or aplastic anemia.

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6. Additional Tests:

• Reticulocyte count, G6PD levels, Coombs test for hemolysis.

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5. Treatment Strategies
1. Nutritional Anemia
1. Iron-Deficiency Anemia:

• Oral iron supplements: Ferrous sulfate or ferrous fumarate (3-6 mg/kg/day).
• Dietary recommendations: Include red meat, poultry, fortified cereals, and green leafy vegetables.
• Address underlying causes like malabsorption or chronic blood loss.

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2. Folate and Vitamin B12 Deficiency:

• Oral or parenteral supplementation based on severity.
• Promote dietary sources: Eggs, dairy products, citrus fruits, and fortified foods.

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2. Genetic Anemias
1. Sickle Cell Anemia:

• Hydroxyurea to reduce sickling episodes.
• Pain management and hydration during crises.
• Blood transfusions and iron chelation therapy.

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2. Thalassemia:

• Regular blood transfusions to maintain hemoglobin levels.
• Iron chelation therapy to prevent iron overload.

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3. Hemolytic Anemia

• Treat underlying infections or remove triggers (e.g., oxidative stress in G6PD deficiency).
• Splenectomy in severe hereditary spherocytosis.

4. Bone Marrow Disorders

• Aplastic Anemia: Immunosuppressive therapy or hematopoietic stem cell transplantation.
• Leukemia: Chemotherapy or targeted therapies as indicated.

6. Preventive Strategies
1. Nutritional Interventions

• Fortification of staple foods with iron, folic acid, and B12.
• Educate caregivers on balanced diets.

2. Screening Programs

• Newborn screening for genetic conditions like sickle cell anemia.
• Routine anemia screening in high-risk populations.

3. Vaccinations

• Prevent infections like malaria and hepatitis that exacerbate anemia.

4. Public Health Policies

• Promote breastfeeding, as it provides iron and essential nutrients for infants.
• Control parasitic infections like hookworm in endemic regions.

7. Challenges in Pediatric Anemia Management

• Poor adherence to iron supplementation due to gastrointestinal side effects.
• Delayed diagnosis in resource-poor settings.
• Stigma associated with genetic anemias.

Conclusion
Pediatric anemia is a multifaceted condition with diverse etiologies requiring a tailored diagnostic and treatment approach. Early identification and comprehensive management are crucial to improving outcomes and preventing complications. For medical students and doctors, understanding the nuances of pediatric anemia equips them to deliver effective care and contribute to broader public health initiatives. By integrating clinical expertise with preventive strategies, the medical community can significantly reduce the burden of anemia in children worldwide.