Hemoglobin H disease with a rare α-thalassemia gene mutation (--/αα): pedigree analysis and genetic diagnosis / 南方医科大学学报

<p><b>OBJECTIVE</b>To identify a rare α-thalassemia gene mutation in a family from south China and perform a pedigree analysis and genetic diagnosis of hemoglobin H (HbH) disease caused by this mutation.</p><p><b>METHODS</b>Peripheral blood samples were collected from the family members for analysis of the hematological phenotype and routine test of thalassemia genes. DNA sequencing was carried out for samples that showed genotype and phenotype inconsistency.</p><p><b>RESULTS</b>A rare α-thalassemia *92A>G gene mutation was detected within this family. The proband and his sister were confirmed to have non-deletional HbH disease with α--/αα genotype. The proband's brother was confirmed to have an α-thalassemia trait with the genotype of -α/αα. The proband's father was identified as an α-thalassemia silent carrier with the genotype of αα/αα.</p><p><b>CONCLUSION</b>A rare α-thalassemia *92A>G gene mutation was identified for first time in south China. The description of the basic phenotypic characteristics of α-thalassemia trait and silent carrier caused by this mutation enriches the α-thalassemia gene mutation spectrum in Chinese population and helps in population screening, clinical molecular diagnosis and genetic counseling.</p>

[Longitudinal investigation on intestinal parasite infections among rural people in West Dongting Lake region].

The nylon pocket concentration method and modified Kato-Katz technique were used to detect the eggs of intestinal parasites and the iodine smear method was used for the detection of protozoa among the rural population in West Dongting Lake region. The infection rate of parasites in 2006 was 11.84%, and it declined by 86.63%, 81.34%, and 47.28%, respectively, compared to the rates in 1983, 1993, and 2003. Six major parasites were detected including Ascaris lumbricoides, Trichuris trichiura, Fasciolopsis buski, hookworm, Entamoeba histolytica and Giardia lamblia, and their infection rates were 8.60%, 6.41%, 1.75%, 0.14%, 2.50%, and 1.22%, respectively. The rate of multiple infections was 22.98%. The infection rates in the 5-9 years age group and 10-14 years age group were higher than those in other age groups.