Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC.
The conventional approach to qualitative and quantitative analyses of hemoglobin (Hb) molecules for the diagnoses of hemoglobinopathies requires a combination of tests. We used an automated HPLC (VARIANT) system to study alpha-thalassemia and beta-thalassemia syndromes in Thailand. The beta-thalassemia short program is applicable to the diagnosis of alpha-thalassemia and beta-thalassemia disorders, including Hb H, EA Bart's disease, and EF Bart's disease, in adults, newborns, and fetuses. The system cannot quantify accurately certain Hb molecules, such as Hb H and Hb Bart's. The alpha-thalassemia short program was therefore developed and used to quantify Hb Bart's to detect alpha-thalassemia genotypes in cord blood. This automated HPLC system is an alternative approach to the diagnosis of complicated thalassemia syndromes in Thailand and Southeast Asia.
Fucharoen
S
S
Thalassemia Research Center, Department of Medicine, Mahidol University, Nakornpathom, Thailand. grsfc@mahidol.ac.th
Winichagoon
P
P
Wisedpanichkij
R
R
Sae-Ngow
B
B
Sriphanich
R
R
Oncoung
W
W
Muangsapaya
W
W
Chowthaworn
J
J
Kanokpongsakdi
S
S
Bunyaratvej
A
A
Piankijagum
A
A
Dewaele
C
C
D000328:Adult; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D006443:Hemoglobin A2 / Q000032:analysis; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013785:Thailand; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis*
D006455:Hemoglobins, Abnormal; D006443:Hemoglobin A2