Atypical hemoglobin H disease in a Thai patient resulting from a combination of alpha-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity.
A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a beta-globin chain variant is reported in a 3-yr-old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A2, H, Bart's and Constant Spring was detected. The amount of this abnormal band movement towards more anodic to the hemoglobin A was 35.7%. DNA analysis of the alpha-globin gene cluster by polymerase chain reaction (PCR) revealed a combination of defects caused by the SEA-type alpha-thalassemia 1 and the alpha-Constant Spring gene. Analysis of beta-globin gene by PCR and DNA sequencing also detected the heterozygosity for the GGC-GAC mutation at codon 56, leading to a substitution of aspartic acid for glycine resulting in the hemoglobin J Bangkok. The hematologic data of this unusual case of hemoglobin H disease are presented and compared with two compound heterozygotes for hemoglobin J Bangkok and alpha-thalassemia 1 found in the patient's father and grandfather. A simple DNA assay based on an allele-specific PCR for rapid diagnosis of the hemoglobin J Bangkok is also described.
Fucharoen
S
S
Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand. supan@kku.ac.th
Ayukarn
K
K
Sanchaisuriya
K
K
Fucharoen
G
G
D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006441:Hemoglobin A / Q000032:analysis; D006443:Hemoglobin A2 / Q000032:analysis; D006447:Hemoglobin H / Q000032:analysis; D006448:Hemoglobin J / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013785:Thailand; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; C029522:hemoglobin J Bangkok; D005914:Globins; D004247:DNA; D006441:Hemoglobin A; D006443:Hemoglobin A2; D006447:Hemoglobin H; C030448:hemoglobin Bart's; C035541:Hemoglobin Constant Spring