RESUMEN
BACKGROUND: Many new variants are constantly detected by capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). Here, we described a novel α-globin gene mutation. METHODS: The proband was a 46-year-old male who came to the hospital with his wife for pre-conception thalassemia screening. Hematological parameters were obtained from a complete blood count. Hb analysis was performed by CE and HPLC. Routine genetic analysis was carried out by Gap-polymerase chain reaction (Gap-PCR) and PCR and reverse dot-blot (PCR-RDB). Sanger sequencing was used to identify the hemoglobin variant. RESULTS: An abnormal Hb variant was observed at electrophoretic zone 5 and zone 1 on the CE program. HPLC showed a peak of abnormal Hb in the S window. No mutations were detected by Gap-PCR and PCR-RDB. Sanger sequencing revealed an AAC>AAA mutation at codon 78 of the α-globin gene [α1 78 (EF7) AsnâLys (AAC> AAA); HBA1:c.237C>A]. The pedigree study demonstrated that the Hb variant was inherited from his mother. CONCLUSIONS: It is the first report about the variant, so we named it Hb Qinzhou for the place of origin of the proband. Hb Qinzhou presents a normal hematological phenotype.
Asunto(s)
Hemoglobinas Anormales , Talasemia alfa , Humanos , Masculino , Globinas alfa/genética , Globinas alfa/análisis , Talasemia alfa/diagnóstico , Talasemia alfa/genética , Pueblos del Este de Asia , Hemoglobina Glucada/genética , Hemoglobinas Anormales/genética , Hemoglobinas Anormales/análisis , Mutación , Persona de Mediana EdadRESUMEN
OBJECTIVE: To analyze the genotype and phenotype correlation in the hemoglobin E (HbE) carriers, and to investigate the effect of HbE on hematological parameters. METHODS: The capillary electrophoresis was used to screen total 14 141 samples and blood cell analysis was further processed to the HbE carrying samples. Gap-PCR and reverse dot blot hybridization method were used for the detection of Chinese common mutation of α and ß thalassemia. RESULTS: There is a statistical difference in hematological phenotype index (HGB, MCV, MCH, HbE, HbA(2)) between samples of HbE heterozygous (53 samples), HbE homozygous (2 samples), HbE composite α thalassemia (α-thal, 7 samples) and HbE composite ß thalassemia (ß-thal, 8 samples). Among the four groups, HbE heterozygous \[HGB (122.7 ± 19.99) g/L, MCV (78.65 ± 5.03) fl\] and HbE composite α-thal \[HGB (113.6 ± 22.68) g/L, MCV (73.50 ± 7.73) fl\] had slight effect on hematological parameters, but HbE composite ß-thal \[HGB (76.4 ± 12.30) g/L\], MCV (59.23 ± 5.28) fl\] had the heaviest effect on hematological parameters. CONCLUSION: Co-existence of HbE heterozygous and other type thalassemias showed variation in their hematological phenotype, so patients should be informed of genetics in prenatal diagnosis.