Literature DB >> 29737888

δ-Thalassemia with Complete Absence of Hb A2 in a Chinese Family.

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.

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Keywords:  HBD gene; mutation detection; β-Thalassemia (β-thal); δ-thalassemia (δ-thal)

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Year:  2018        PMID: 29737888     DOI: 10.1080/03630269.2018.1463916

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  Detection of a Hb A2 -Melbourne (HBD: c.130G>A) combined with β-thalassemia in a Chinese individual.

Authors:  Youqiong Li; Tongfeng Huang; Tian Mao; Xiuqun Zhang; Liang Liang; Menghui Meng
Journal:  J Clin Lab Anal       Date:  2020-08-08       Impact factor: 2.352

  1 in total

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