| Literature DB >> 29737888 |
Hai-Shen Tang1, De-Gang Wang1, Lv-Yin Huang2, Dong-Zhi Li2.
Abstract
A Chinese family with δ-thalassemia (δ-thal) was found, in which the daughter is homozygous for δ-thal (HBD: c.-127T>C) with complete deficiency of Hb A2 and the mother is a heterozygote with low level of Hb A2. The father, however, is a heterozygote with a normal Hb A2 value due to coinheritance of a β-thalassemia (β-thal). Although no abnormal clinical or hematological findings were noted in the individuals with δ-thal, one should keep in mind that β-thal can be missed during routine preliminary screening when β-thal and δ-thal coexist in a subject.Entities:
Keywords: HBD gene; mutation detection; β-Thalassemia (β-thal); δ-thalassemia (δ-thal)
Mesh:
Substances:
Year: 2018 PMID: 29737888 DOI: 10.1080/03630269.2018.1463916
Source DB: PubMed Journal: Hemoglobin ISSN: 0363-0269 Impact factor: 0.849