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.
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.
Zhu
Chunjiang
C
Department of Pediatrics, Affiliated Hospital of Guilin Medical College, Guilin 541001, Guangxi, China.
Yu
Wenfang
W
Xie
Jiansheng
J
Chen
Ling
L
Ding
Hui
H
Shang
Xuan
X
Xu
Xiangmin
X
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
D055542:alpha-Globins