Mucopolysaccharidosis VII: report of a case and review of the literature / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.</p><p><b>METHOD</b>The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.</p><p><b>RESULT</b>The 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L). The biochemical markers showed urinary glycosaminoglycans (GAG) (532.8 mg/L, controls < 70.0 mg/L). The ratio of GAG/creatinine was 161.3 (controls: 26.2 ± 11.7). Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control < 53 nmol/(ml·h)]. Beta-glucuronidase activity was deficient in isolated leukocytes.</p><p><b>CONCLUSION</b>Severe form of mucopolysaccharidosis VII exhibited characteristics of hydrops fetalis, hepatosplenomegaly, coarse face, thrombocytopenia and Alder-Reilly granules in the leucocytes. The measurements of GAG in urinary and beta glucuronidase in leucocytes are critical to diagnosis and deferential diagnosis.</p>

Changes of iron metabolism indices in children with various genotypes of thalassema / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the value of iron metabolism indices, serum iron (SI), total iron blinding capacity (TIBC) and transferring (Tf), in thalassema.</p><p><b>METHODS</b>The serum samples from 9 children with silent alpha thalassema, 56 with standard alpha thalassema, 26 with HbH disease, 40 with beta+ thalassema, 56 with beta0 thalassema, 45 with iron deficiency anemia (IDA) and 70 healthy children were detected for SI, TIBC and Tf levels.</p><p><b>RESULTS</b>The SI level increased (p<0.01), while the TIBC level decreased significantly in the beta0 thalassema group compared with those in the other groups (p<0.05 or 0.01), but the Tf level was not different. The Tf level of both the silent alpha thalassema and the standard alpha thalassema groups was statistically lower than that of the healthy group (p<0.01), but the levels of SI and TIBC were similar to the healthy group. Though the SI level of the HbH disease group was similar to the healthy group, the TIBC and Tf levels were statistically lower (p<0.01).</p><p><b>CONCLUSIONS</b>Compared with Tf, SI and TIBC are better indices for monitoring iron loading in children with thalassema. The increased SI level and decreased TIBC level are two indices for the diagnosis of beta(0) thalassema in children with cellule anaemia.</p>

Molecular analysis of beta-thalassemia intermedia in Guangdong Province / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To determine the molecular defects of beta-thalassemia intermedia in Guangdong Province and to provide basis for gene diagnosis and gene therapy of this disorder.</p><p><b>METHODS</b>DNA analysis of the alpha, beta and gamma globin genes was performed in 18 children with beta-thalassemia intermedia from Guangdong Province using polymerase chain reaction (PCR), microarray technique, Southern blot and direct sequencing.</p><p><b>RESULTS</b>Of the 18 patients,one was identified as the homozygote of TATA box-28 (A-->G) change, one as the homozygote of betaE26 (G-->A) mutation, ten as compound heterozygotes of TATA box- 28 (A-->G) mutation with other beta-globin mutations, two as compound heterozygotes of betaE26 (G-->A ) mutation with other beta globin mutations, and four as double heterozygotes for beta globin and alpha globin mutations including -SEA and -alpha(4.2).</p><p><b>CONCLUSIONS</b>The molecular defects of beta- thalassemia intermedia in Guangdong Province were highly heterogeneous and its spectrum was different from the reports from other provinces of China.</p>

Diagnosis of thalassemia by using genechips / 中华儿科杂志

<p><b>OBJECTIVE</b>The new technology of genechip is exerting a significant impact on the identification of thalassemia, and allows to rapidly and efficiently detect a number of molecular disorders. The aim of the present study was to explore the application value of the diagnostic genechip in determining thalassemia.</p><p><b>METHODS</b>The subjects group consisted of 62 children with alpha thalassemia and 93 children with beta thalassemia (60 with thalassemia trait, 33 with thalassemia major) from Guangdong province were tested from July 2002 to July 2003; 115 were males and 40 were females, the age ranged from 1 day to 11 years. These children had mild, moderate or severe anemia. Laboratory examinations showed microcytosis and hypochromocytosis. DNA was extracted from ACD coagulated blood with Invisorb DNA extraction kit. After preparation, the alpha and beta globin gene organization and structure of sample was analyzed by genechip technology.</p><p><b>RESULTS</b>(1) Heterozygotes, homozygotes and compound heterozygotes of the three commonest deletional alpha thalassemia (--(SEA), -alpha(3.7), -alpha(4.2)) and two non-deletional alpha thalassemia (HbCS, HbQS) were successfully detected. (2) Eight different mutations were identified in 126 chromosomes among 60 cases with beta thalassemia traits and 33 cases with beta thalassemia major, namely CD41-42, IVS-II-654, TATAbox-28, CD17, CD71-72 (+A), betaE(26) CD27-28 (+C) and CD71-72 (+T), with the frequencies of 33.5%, 23.9%, 15.0%, 15.0%, 4.8%, 2.4%, 2.4% and 1.5% respectively. (3) Eight cases (13.3%) in 60 thalassemia traits, two cases (6%) 33 cases with thalassemia major were detected to be combined with alpha thalassemia mutation.</p><p><b>CONCLUSION</b>(1) The usage of genechip in identifying thalassemia mutations has the advantages of simplicity, economy and shorter time. This technique does not use radioisotope and could also detect alpha and beta thalassemia mutations simultaneously. (2) The occurrence of alpha and beta thalassemia dual heterozygotes is frequent in Guangdong province and the genechip technology is important in genetic counseling and prenatal diagnosis of thalassemia in this area.</p>