Carboxymethyl-cellulose microchromatography for the quantitation of hemoglobin Bart's (gamma 4) and its use in the detection of the alpha-thalassemia conditions.
A modification of an existing (micro) CM-cellulose chromatographic procedure is introduced for the quantitation of hemoglobin Bart's (or gamma 4) in blood samples of newborn babies. Normal newborn with four active alpha chain genes (alpha alpha/alpha alpha) have small amounts (average 0.55%) of this abnormal hemoglobin while increased percentages are present in newborn with an alpha-thalassemia-2 heterozygosity (alpha 0 alpha/alpha alpha; average 1.55%) or an alpha-thalassemia-2 homozygosity (alpha 0 alpha/alpha 0 alpha; average 4.65%). The identification of hemoglobin Bart's in normal newborn was made by high-performance liquid chromatography, and the absence of contaminating non-hemoglobin proteins was confirmed by electrophoresis and additional chromatographic experiments. This rapid procedure is useful for the detection and differentiation at time of birth of the different alpha chain deficiencies which are common among various populations in the world.
D002845:Chromatography / Q000379:methods; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004592:Electrophoresis, Starch Gel / Q000379:methods; D006580:Genetic Carrier Screening / Q000379:methods; D006455:Hemoglobins, Abnormal / Q000302:isolation & purification*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
D006455:Hemoglobins, Abnormal