title: Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy.
abstract: Hemoglobin (Hb) H disease is a moderate form of α-thalassemia resulting from various genetic defects. A novel frameshift mutation cd 43/44(-C) at the α2-globin gene was identified in a Chinese boy with hemoglobin H disease by sequencing. The proband's mother carries a common α-thalassemia deletion while his father was normal both in the hematological phenotype and α-globin genotype, which suggested that it occurred as a de novo mutation. Molecular studies revealed a compound heterozygote for the Southeast Asian α-thalassemia deletion and this novel spontaneous mutation (-/α(T)α) and the patient exhibited the clinical manifestation of classic hemoglobin H disease. Based on the results of excluding the possibility of a somatic mosaicism of a point mutation in the α2-globin gene, we progress that this de novo single-base deletion should have arisen during the spermatogenic process or earlier embryonic stage. The present study provides information in determining a supplementary model of inheritance for α-thalassemia, which should be useful in genetic counseling.
authors.affiliation: Department of Pediatrics, Affiliated Hospital of Guilin Medical College, Guilin 541001, Guangxi, China.
authors.forename: Chunjiang
authors.initials: C
authors.lastname: Zhu
authors.forename: Wenfang
authors.initials: W
authors.lastname: Yu
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
authors.forename: Ling
authors.initials: L
authors.lastname: Chen
authors.forename: Hui
authors.initials: H
authors.lastname: Ding
authors.forename: Xuan
authors.initials: X
authors.lastname: Shang
authors.forename: Xiangmin
authors.initials: X
authors.lastname: Xu
mesh_terms: D000328:Adult; D044466:Asian People; D002681:China; D005220:Fathers; D005260:Female; D016368:Frameshift Mutation; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008957:Models, Genetic; D009030:Mosaicism; D009035:Mothers; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D055542:alpha-Globins