Pediatric Chronic Anemia Clinical Presentation
- Author: Susumu Inoue, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
Patients with chronic anemia are usually asymptomatic, even with remarkably low levels of hemoglobin.
Symptoms more often relate to the underlying cause; for example, irritability, pagophasia (ice eating), and lethargy can occur if the anemia is secondary to iron deficiency; paresthesia of hands and feet, if the anemia is due to vitamin B-12 deficiency; left upper quadrant pain, if the anemia is the result of HS and splenomegaly; intolerance to fatty foods, if the anemia is caused by chronic hemolysis with subsequent cholelithiasis; and constipation and cold intolerance, if the anemia is the result of hypothyroidism. Undetected celiac disease or renal failure sometimes manifest as chronic anemia and failure to thrive. Diarrhea and intermittent abdominal pain and chronic anemia may be due to Crohn disease or celiac disease.
Hemoglobin levels as low as 5-6 g/dL are well tolerated in most patients, and patients do not require transfusion. Parents, however, frequently note that patients become much more active following a transfusion.
Inquire carefully regarding any evidence of blood loss (eg, hemoptysis, hematochezia, melena, hematuria, menorrhagia). In endemic areas, a history of papulovesicular skin lesions on the feet may suggest a diagnosis of hookworm infestation.
Age is always an important consideration. Nutritional iron deficiency is seen in older infants and toddlers (aged 6 mo to 3 y), whereas iron deficiency due to blood loss occurs in menstruating girls. The deficiency can be surprisingly severe, but transfusion is indicated only in the rare circumstance of impending high-output cardiac failure.
The patient's sex must always be considered in hemolytic anemias. Severe G-6-PD deficiency may be seen as a chronic nonspherocytic anemia, usually in males.
Ethnicity is a factor in the hemoglobinopathies. Hemoglobin S syndromes are usually seen in populations of central African origin. Hemoglobin C syndromes are seen in populations of western African origin. Hemoglobin D syndromes are usually seen in the population of northern India. Hemoglobin E syndromes are seen in populations of Southeast Asia. Beta-thalassemias are seen in Mediterranean, Middle Eastern, Indian, and Southeast Asian populations. Thalassemias involving the β chain are clinically silent in the first months of life and become apparent only after 6-9 months because of cessation of γ-chain production. Alpha-thalassemias are seen in African, Middle Eastern, and Asian populations.
Dietary history is important with regard to the amount and source of milk ingested by infants and toddlers and to their risk of chronic iron deficiency (24 oz of milk/d or more is a clear risk factor for nutritional iron deficiency in infants and young children). Food aversions (eg, to leafy vegetables) can cause predisposition to folic acid deficiency. Folic acid deficiency also occurs in children fed exclusively with goat's milk. Certain diets (eg, vegan diet) can result in vitamin B-12 deficiency if continued over several years.
Blood loss over an extended period results in iron deficiency. Chronic infection or inflammation, such as chronic pyelonephritis, bacterial endocarditis, osteomyelitis, or juvenile idiopathic arthritis, results in the anemia of chronic disease. Any inflammatory process, such as chronic renal failure or a chronic collagen vascular disease, also results in the anemia of chronic disease. Episodic pain in the chest, abdomen, or extremities may be due to a vasoocclusive crisis of sickle cell disease.
Drugs with oxidant properties trigger hemolysis because of a G-6-PD deficiency, and hemolysis may become chronic if the drugs are continued for an extended period. Exposure to known marrow toxins, such as benzene or the antibiotic chloramphenicol, may result in aplastic anemia months after actual exposure.
Neonatal history may provide useful information regarding a possibly overlooked congenital process that manifested after birth. Exaggerated jaundice as a newborn may be a clue for HS or G-6-PD deficiency.
Family history is critical in any hereditary anemia. Anemia occurs in families with thalassemia syndromes. Gallstones, early cholecystectomy, and splenomegaly are common in families with HS.
Vital signs, in contrast to those in acute anemia (such as anemia due to acute blood loss), are rarely abnormal in patients with chronic anemias, because adaptive mechanisms are well developed. Tachycardia on exertion is usually the only exception to this rule.
Growth curves may be affected by chronic anemia, usually in a symmetrical fashion, although head circumference is not affected.
Fanconi anemia is characterized by some or all of the following dysmorphic features: small stature, small head, absent thumbs, and café-au-lait spots.
Chronic hemolysis with extramedullary hematopoiesis, such as in β-thalassemia major or sickle cell anemia, may result in frontal bossing and prominent cheeks.
Pallor may be difficult to appreciate unless carefully sought. Pallor of the conjunctivae, nail beds, palm creases, or gums may be recognized. Parents and friends usually do not notice any difference, because the problem is chronic.
Scleral icterus is common in chronic hemolytic anemia. The icterus waxes and wanes.
Petechiae and excessive bruises may indicate thrombocytopenia resulting from marrow aplasia or replacement by malignant cells. Less commonly, the same findings may reflect vasculitis resulting from infection or collagen vascular disease.
Papulovesicular lesions on the feet may suggest hookworm infestation.
Systolic murmur may be apparent and is usually loudest along the left sternal border, as is appropriate in any flow murmur.
Gallop rhythm, cardiomegaly, and hepatic enlargement may indicate early congestive heart failure.
Splenomegaly may indicate chronic hemolysis, as in HS, or elliptocytosis. It may also suggest hypersplenism due to many causes, such as portal hypertension or storage disease. Hypersplenism usually causes mild leukopenia and thrombocytopenia as well. Splenomegaly may also indicate leukemia, myelofibrosis, myeloproliferative disorder, or myelodysplastic syndrome.
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