Differential Diagnosis: Homozygous beta thalassemia (thalassemia intermedia or major), hereditary persistence of fetal hemoglobin (HPFH), prematurity, normal variation in fetal hemoglobin expression, or mother with diabetes mellitus.
Condition Description: A red blood cell disorder characterized by a reduction in or lack of normal beta globin production and absence of Hb A (F [fetal Hb] only).
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Hemoglobin separation by electrophoresis, isoelectric focusing, or high performance liquid chromatography (HPLC), shows F-only pattern. DNA studies may be used to confirm genotype.
Infants with this finding are usually normal. With beta-thalassemia, severe anemia may develop in the first few months of life. Complications include growth retardation, intercurrent infections, progressive hepatosplenomegaly, skeletal abnormalities, and severe iron overload. Comprehensive care including family education, immunizations, regular transfusions, and prompt treatment of acute illness reduces morbidity and mortality.