A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α+-Thalassemia in two Chinese Patients.

We report a novel -α6.3 deletion and a rare -α27.6 deletion causing α+-thalassemia (α+-thal), in two Chinese patients. One patient was a 35-year-old Chinese man with a mild α+-thal phenotype [mean corpuscular volume (MCV) 83.6 fL] and the Hb A2 level (2.5%) was close to borderline of the normal range. Multiplex ligation-dependent probe amplification (MLPA) revealed a novel 6344 bp deletion involving the entire HBA1 gene. Mapping by gap-polymerase chain reaction (gap-PCR) defined the exact breakpoint of this deletion to be NG_000006.1: g.31022_37366del6344. It was unique relative to other forms of α-thalassemia (α-thal) reported in the literature, and was designated as -α6.3 deletion. The other patient, a 41-year-old woman had Hb H (ß4) disease [hemoglobin (Hb) level of 8.9 g/dL] with a compound heterozygosity for the - -SEA (NG_000006.1: g.26264_45564del19301) deletion. The MLPA and gap-PCR methodologies confirmed the breakpoint (NG_000006.1: g.9079_36718del27640) and identified it as the rare -α27.6 deletion.

[Relationship between the changes of beta2-microglobulin in blood and urine and kidney involvements in children with pneumonia].

OBJECTIVE: To investigate the relationship between the changes of serum and urine beta2-microglobulin (beta2-MG) in children with pneumonia and the renal impairment, and to explore the sensitive index for early diagnosis of renal injury. METHODS: The contents of serum and urine beta2-MG were determined with radio immunoassay in 145 cases with pneumonia at the stages of acute and convalescence and 82 healthy controls, serum creatinine (SCr) and blood urea nitrogen (BUN) were also determined at the same time. RESULTS: The contents of serum and urine beta2-MG in children with pneumonia at the stages of acute were significantly higher than those in controls (both P<0.01), and compared with convalescence, there was a significant difference (both P<0.05). There was no significant difference between the convalescence and healthy control groups. There were found to have a significant difference in these data between attack and interval stages, and mild and severe pneumonia in children (both P<0.05). At the same time, the study showed that there was significant positive correlation between serum beta2-MG and BUN or SCr in children with pneumonia (r(BUN)=0.635, r(Cr)=0.621; both P<0.05). The abnormal rate of serum beta2-MG at the acute stages was markedly higher than that of SCr and BUN. CONCLUSION: The major characteristics of children's pneumonia is a reversible renal injury, which is a widespread pneumonia to be following in children with pneumonia and it is more significant in severe pneumonia. Serum and urine beta2-MG can be a sensitive index of monitoring the kidney involvement at early stage of pneumonia in children.