case_images: PMC10749304_01
case_images: Hemoglobin analysis and molecular diagnosis in this family. The male (--SEA/alphaCSalpha, betaCDs41-42(-TTCT)/betaN) CE result showed Hb CS but no Hb H because of the combination of beta-thalassemia (A1). The female (alphaQSalpha/alphaalpha, betaN/betaN) was a Hb QS carrier, but there was no abnormal finding on the CE program because Hb QS was not detected by CE (A2). Agarose gel electrophoresis (B) suggested normal for the female (1), SEA heterozygous state for the male (2), and normal for the fetus (3). The female was heterozygous for Hb QS (C1), the male was homozygous for Hb CS (C2), and the fetus was heterozygous for Hb CS (C3) in the alpha-globin chain using reverse dot blot hybridization (RDB). Normal was found in female (D1) and fetus (D3), but CDs41-42 (-TCTT) were heterozygous state in male (D2) by RDB.
case_images: fgene-14-1258293-g001.jpg
case_images: PMC10749304_01_fgene-14-1258293-g001.jpg
case_images: F1
case_images: Gap-PCR and reverse dot blot hybridization revealed an alphaQSalpha/alphaalpha genotype in the female and a--SEA/alphaCSalpha and betaCDs41-42(-TTCT)/betaNgenotype in the male (Yaneng Ltd., Shenzhen, Guangdong, China) (Figure 1).
case_images: The results of flow-through hybridization were normal in the female (A1), compound heterozygosity for c.299_300delAT and c.109G>A in the male (A2), and a c.109G>A heterozygous (A3) in the fetus. Sanger sequencing identified a c.508_511dup heterozygous state in female (B1) and fetus (B2).
case_images: fgene-14-1258293-g002.jpg
case_images: PMC10749304_01_fgene-14-1258293-g002.jpg
case_images: F2
case_images: The prenatal diagnosis of deafness in the villi was c.508_511dup combined with c.109G>A in the GJB2 gene (Figure 2).