Screening for alpha-thalassemia in neonates. Routine erythrocyte measurements.
Alpha-thalassemia can be diagnosed in the neonate based on the level of Bart's Hemoglobin (HbB) in cord blood. This level corresponds to the degree of alpha-gene deletion. Thus, the extent of the alpha-thalassemia carrier state can be determined. This is important for genetic counseling. Because HbB is present only until a child is six months of age, and the hematologic manifestations of the carrier state may be mild, early detection is important. This study identified a logarithmic relationship between the mean corpuscular volume (MCV) and HbB. Additionally, a discrimination level of 93.5 fL. was calculated to screen for neonates that required evaluation with hemoglobin electrophoresis to identify two- and possibly three-gene deletion alpha-thalassemia. The red blood cell indices were found not to be useful in identifying patients with a one-gene deletion alpha-thalassemia.
D004909:Erythrocyte Indices; D005312:Fetal Blood / Q000032:analysis; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's