ABSTRACT
<p><b>OBJECTIVE</b>To analyze the genotype-phenotype correlation among carriers from Guangdong with co-inherited hemoglobin Hb Westmead (HbWS) and β-thalassemia.</p><p><b>METHODS</b>Twenty three patients (including 9 males and 14 females, aged 1-53 year old) were diagnosed by hematological analysis and genetic testing. Complete blood cell count and hemoglobin electrophoresis analysis were performed on a XE4000i automatic hemocyte analyzer. Hb, HbF and HbA2 were tested by high performance liquid chromatography (HPLC). Gap-PCR was adopted to detect three common thalassemia deletions. Reverse dot-blotting (RDB) assay was applied for detecting three common non-deletional α2 gene mutations and β-thalassemia.</p><p><b>RESULTS</b>Among the 23 patients, 12 showed anemia, among whom 9 had mild anemia and 3 had moderate anemia. The lowest Hb was 68 g/L, and both mean corpuscular volume and mean corpuscular hemoglobin were lower than average, while HbA2 was higher than 3.5%. Genetic analysis confirmed that 5 cases had αWS-α/α-α, β CD654/β N (21.7%), 4 had α WS-α/α-α, β CD41-42/β N (17.4%), 5 had α WS-α/α-α, β CD17/β N (21.7%), 4 had α WS-α/α-α, β CD28/β N (17.4%), 1 had α WS-α/α-α, β CD71-72/β N (4.3%), 1 had αWS-α/α-α, β CD27-28/β N (4.3%), 1 had α WS-α/α-α, β CD41-42/β CD17 (4.3%), 2 had a concomitant β-thalassemia heterozygosity and -α 3.7 deletion.</p><p><b>CONCLUSION</b>Patients with co-existing Hb WS and other β-thalassemia trait may show variable clinical features. Such compound heterozygotes are usually misdiagnosed during screening by hemoglobin electrophoresis, accurate diagnose should be attained by molecular diagnosis.</p>
Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Asian People , Genetics , China , DNA Mutational Analysis , Erythrocyte Indices , Genetic Association Studies , Methods , Genotype , Hemoglobins , Genetics , Metabolism , Hemoglobins, Abnormal , Genetics , Phenotype , Polymerase Chain Reaction , Methods , beta-Thalassemia , Blood , Ethnology , GeneticsABSTRACT
Objective To analyze the clinical pathology features of light-chain amyloidosis associated renal disease,and investigate the survival influential factors. Method From January 1998 to March 2009,25 patients with light-chain amyloidosis associated renal disease were reviewed and followed up.Results Of the 25 patients with light-chain amyloidosis associated renal disease,median age was 57(37-69) years old and lamda light-chain predominated (88% ,22/25). Heavy proteinuria and nephrotic syndrome with peripheral edema were typical clinical presentations. Renal biopsy showed that amyloid deposition of light-chain amyloidosis associated renal disease involved the glomeruh mostly, with mesangial area widening. Median survival of all patients was 24.4 months after diagnosis. The estimated 1,2,3 year survival rate was (65 ± 10 )%, (46 ± 12 )% and (15 ± 12 )% respectively. There was significant difference in median survival between the two groups (24.7 months in the group of 14 patients with isolated kidney affected,16.4 months in the group of 11 patients with kidney and other organs involved,P = 0.03). By univariate analysis, kidney associated with other organs amyloidosis and renal dysfunction were relevant to prognosis (P ＜ 0.05) and heart involvement was probably relevant (P = 0.06),whereas sex,age,plasma cell ratio,serum albumin level and hemoglobin level had no relation(P＞ 0.05 ). Multivariate analysis revealed that renal dysfunction at the time of diagnosis was a significant and independent prognostic factor for survival (P ＜0.05). Conclusions Renal dysfunction at the time of diagnosis is the best predictor of survival. The presence of amyloidosis in organs other than the kidney, such as advanced cardiac amyloidosis, predicts a poor survival.
ABSTRACT
Objective To evaluate immunofixation electrophoresis (IFE) and to compare it with conventional manual heat test method for detection of Bence Jones (BJ) protein in nonconcentrated urine. Methods We performed IFE and heat test for urinary protein analysis in 116 urine samples and evaluated a new immunofixation electrophoresis system by urinary protein analysis in 20 patients with multiple myeloma. Results 20 patients with multiple myeloma were detected to have BJ proteins (8 ? and 12?) in urine by IFE, whereas no urine BJ proteins by heat test. Conclusion The heat test for BJ proteins should be replaced by IFE because of its insensitivity and unspecificity. The IFE method is higherly sensitive and specific for screening and identification of BJ proteins in urine.