Background HbQ-Thailand is an α-globin chain variant that results from a point mutation at codon 74 of the α1-globin gene on chromosome 16p. It commonly appears with a leftward single α-globin gene deletion (-α 4.2 ). There have been few reports regarding the interaction between HbQ-Thailand and other globin gene disorders. Here we found and diagnosed it in the Hakka population of the Fujian Province, China. The study provides an important reference for the clinic diagnose and genetic counseling of thalassemia and hemoglobin diseases. Methods Fresh peripheral blood samples were collected from the proband and her family members testing hematological parameters, hemoglobin components, thalassemia gene, and hemoglobin variants. Results The proband (II1) and her sister (II5) manifested in the obvious microcytic hypochromic anaemia. The CE electropherogram of II1 showed an abnormal band in the migration time at 185 s, which was confirmed as HbQ-Thailand. Another exception band appeared at 250 s of migration time and was proved to be HbE by sequence analysis method. The CE electropherogram of I1 and II3 showed an anomalous band HbE. The mother of the proband (I2) and the III4 and III5 of the family members showed a HbQ-Thailand. The gene results showed that the father (I1) also carried α- and β-thalassemia genes. His genotype was -- SEA and β codons26 ; -- SEA was inherited to II1, II 3, II5, III 1, and III2, and β codons26 was inherited to II1 and II3. The mother (I2) carries the -α 4.2 gene, which was inherited to II1, II5, III4, and III5. Conclusion It was complex to diagnose when the thalassemia combined with several abnormal haemoglobin disorders, and we may use various methods to mutual confirmation. Here we found and diagnosed a rare hemoglobin disease in the Hakka population of the Fujian Province. The study provides an important reference for the clinic diagnose and genetic counseling.
Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder with clinical and genetic heterogeneity. BBS is more commonly reported in adults and children than in fetuses. Here, we reported the intrauterine phenotype and molecular characterizations of a fetus with BBS. Methods: Chromosome karyotype analysis, whole exome sequencing (WES), and a single nucleotide polymorphism array (SNP-array) were used to analyze the genetic etiology of a fetus with enlarged kidneys, enhanced echo, and oligohydramnios. Results: The results of chromosome karyotype analysis and SNP-array on the fetus were normal. WES, however, revealed homozygous mutation of c.1177C>T (p.Arg393*) on exon 12 of the BBS1 gene, and heterozygous variation of c.2704G>A (p.Asp902Asn) on exon 22 of the CC2D2A gene. According to ACMG guidelines, c.1177C> T was identified as a pathogenic mutation and c.2704G>A was identified as an uncertain significance. Sanger sequencing showed that there was heterozygous mutation of c.1177C>T and heterozygous variation of c.2704G>A in the parents of the fetus. Conclusions: WES identified a novel homozygous nonsense mutation c.1177C>T in the BBS1 gene of a Chinese fetus. The finding provides more insight into BBS1 mutations in Asian populations in general, and provides a basis for genetic counseling.
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