1.Analysis of phenotypes of Hb J-Bangkok and concomitant thalassemia.
Yumin LI ; Qinquan CAI ; Xiao JIN ; Junlong QIN ; Yaqiong CHEN ; Rui LI ; Yunjun MO ; Xiuming ZHANG
Chinese Journal of Medical Genetics 2021;38(1):7-11
OBJECTIVE:
To analyze the hematological phenotypes of Hb J-Bangkok and concomitant thalassemia.
METHODS:
In total 72 397 samples were screened by using capillary electrophoresis. Samples with Hb J-Bangkok were identified by DNA sequencing and analysis of red blood cell parameters. Gap-PCR and PCR-reverse dot blotting (PCR-RDB) were used for analyzing the thalassemia genes.
RESULTS:
Thirty one cases of Hb J-Bangkok were identified, all of which were heterozygotes. The hematological phenotype index (Hb, mean corpuscular volume, mean corpuscular hemoglobin, Hb J-Bangkok, Hb A
CONCLUSION
Hb J-Bangkok heterozygotes have normal hematological phenotypes, though they may show different hematological characteristics when concomitant with different types of thalassemia, for which genetic counseling should be provided accordingly.
Female
;
Hemoglobins, Abnormal/genetics*
;
Heterozygote
;
Humans
;
Male
;
Phenotype
;
Thailand
;
beta-Thalassemia/genetics*