[Retrospective Analysis of Hematological Phenotypes in Patients with Gene Mutation and Deletion α-Thalassemia].

Objective: To explore the differences between hematological phenotypes of patients with different genotypes in gene mutations and deletion α- thalassemia.

Methods: By screening the α- thalassemia gene test results in the First Affiliated Hospital, Sun Yat-Sen University from January 2015 to April 2020, the patients with mutation and deletion α- thalassemia were obtained, then the differences between hematological phenotypes of patients with different genotypes were analyzed.

Results: There were 96 patients with mutation combined with deletion α- thalassemia from the results of 24 054 α- thalassemia patients screened out, including 79 patients with non-deletion Hb H disease (αα/--) and 17 patients with mild α- thalassemia (αα/-α), the incidence was 0.

[Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].

Objective: To elucidate the molecular mechanism of X-linked adrenoleukodystrophy(ALD) in Chinese.

Methods: Polymerase chain reaction in exon 1, exon 5 and their flanking sequences and direct DNA sequencing of ALD gene were performed in four patients, their mothers and twenty normal individuals as controls.

Results: A splice mutation was identified in the interface of exon 5 and intron 5 (1875 G-->A).