title: Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor.
abstract: This study reports a rare case of β(41/42,Cap)/β(A) genotype in a girl with β-thalassemia (β-thal) minor. The 13-month-old Chinese proband suffered anemia, diarrhea, stunted growth and emaciation. The routine polymerase chain reaction-reverse dot-blot (PCR-RDB) test result for β-thal mutations indicated that she was a compound heterozygote for β(41/42) and β(Cap). However, the complete blood cell (CBC) test gave the following results: mean corpuscular volume (MCV) 79.8 fL, mean corpuscular hemoglobin (MCH) 19.9 pg, with a Hb A2 value of 5.66%, suggesting that the proband also was β-thal minor. The proband's father showed typical microcytic hypochromic anemia characteristics with a decreased MCV and MCH (63.1 fL and 20.9 pg, respectively) and an increased level of Hb A2 (5.60%), while the proband's mother had normal levels of MCV, MCH and Hb A2. The PCR-RDB test result showed her father was also a compound heterozygote for the β(41/42) (HBB: c.126_129delCTTT) and β(Cap) (HBB: c.-11_-8delAAAC) mutations and her mother was normal. Finally, DNA sequencing identified that the β(41/42) and β(Cap) mutations of the proband were inherited from her father and located on one β-globin gene, suggesting that the proband's genotype is β(41/42,Cap)/β(A).
authors.affiliation: Department of Clinical Laboratory , Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, People's Republic China.
authors.forename: Ge
authors.initials: G
authors.lastname: Huang
authors.forename: Ping
authors.initials: P
authors.lastname: Li
authors.forename: Yun-Xiong
authors.initials: YX
authors.lastname: Li
authors.forename: Lian-Zhen
authors.initials: LZ
authors.lastname: Ye
mesh_terms: D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D010641:Phenotype; D016415:Sequence Alignment; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
chemical_list: D055544:beta-Globins