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Importantly, erythrocyte complement receptors exhibit genetic polymorphisms

Importantly, erythrocyte complement receptors exhibit genetic polymorphisms. result of the surge in migration from Southeast Asia to Korea, experienced since the 1990s. Microscopic hematuria is frequently observed in thalassemia patients, and is considered to be the result of tubular damage induced by iron deposition, Cefmenoxime hydrochloride hypercalciuria, hyperuricosuria, and deferoxamine. However, the presence Cefmenoxime hydrochloride and extent of tubular damage have not been thoroughly evaluated by renal biopsy. On the other hand, glomerulonephritis has not been considered to be a main cause of microscopic hematuria in thalassemia. Here, we statement a 70-yr-old Korean man who was diagnosed with beta-thalassemia minor that was associated with IgA nephropathy and complicated by microscopic hematuria and the progression of renal failure. The patient had been diagnosed with anemia 10 yr earlier; follow-up had not included any further diagnostic studies or specific treatment. Hematologic assessments revealed microcytic hypochromic anemia: Hb, 9.9 g/dL; hematocrit, 31.4%; mean corpuscular Cefmenoxime hydrochloride volume, 58.3 fL; mean corpuscular Hb, 18.4 pg; mean corpuscular Hb concentration, 31.5 g/dL. Peripheral blood smear showed anisocytosis, poikilocytosis (target cells), and basophilic stippling. Bone marrow examination revealed normocellular marrow with erythroid hyperplasia but no ringed sideroblasts (Fig. 1). Hb electrophoresis showed a normal pattern: 98.3% Hb A and 1.7% Hb A2. Since the morphologic abnormalities detected in the peripheral blood smear and the bone marrow examination were associated with impaired Hb synthesis, thalassemia was suspected. We confirmed the absence of interracial marriages in his family history based on pedigree analysis. Consequently, the globin genes were analyzed, and all exons and introns of the Hb beta (HBB) gene, which is the causal gene of beta-thalassemia located on chromosome 11p15.5, were sequenced. Subsequently, a heterozygous substitution mutation was discovered in the ATG initiation codon, which changed Cefmenoxime hydrochloride it to AGG. Therefore, a final diagnosis of beta-thalassemia minor was confirmed. The individual did not have any history of transfusion or deferoxamine use. Open in a separate windows Fig. 1 (A) Peripheral blood smear showing microcytic hypochromic reddish cells with frequent targeting and basophilic stippling. (B) Bone marrow aspirate showing erythroid hyperplasia and basophilic stippling in erythroid cells (Wright stain, 1,000). During follow-up, the patient showed prolonged microscopic hematuria with new-onset overt proteinuria and progression of azotemia. Urinalysis showed proteinuria (2+) and blood (3+). More than 90% of the reddish blood corpuscles were Cefmenoxime hydrochloride dysmorphic. Serum IgA levels were elevated to 673 mg/dL; serum levels of other immunoglobulins (IgM, 90.0 mg/dL; IgG, 1,313.0 mg/dL), were normal. Rheumatoid factor and antistreptolysin O titer were also within the reference ranges. Levels of the match proteins C3 (96.0 mg/dL) and C4 (26.0 mg/dL) were in the reference ranges as well; CH50 activity was slightly elevated to 57 U/mL. No viral markers were detected, including hepatitis B surface antigen, anti-hepatitis surface antigen antibodies, and human immunodeficiency computer virus markers. Assessments for cryoglobulins and anti-neutrophil cytoplasmic antibodies were all negative. On the other hand, the fluorescent anti-nuclear antibody test was positive, with a dense fine speckled pattern; the anti-dsDNA antibody test was unfavorable. Kidney ultrasonography showed a chronic renal parenchymal disease. Therefore, a renal biopsy was conducted, and 2 renal cortex cores with 35 glomeruli were obtained. Global sclerosis was detected in 26 of these glomeruli, and fibrocellular crescents were found in 2 glomeruli. Immunofluorescent analysis revealed prominent mesangial staining for IgA. Electron microscopy revealed no significant abnormalities. The patient was diagnosed with IgA nephropathy, based on the renal biopsy results. It has been suggested that microscopic hematuria in thalassemia patients is caused by renal tubular abnormalities. Moreover, the severity of tubular dysfunction was found to be correlated with the CRF (human, rat) Acetate degree of anemia. Other identified factors that could also contribute to renal tubular damage are: shortened reddish cell lifespan, quick iron turnover, multiple blood transfusions, deferoxamine toxicity, iron overload, and tissue deposition of excessive iron [3-6]. Several studies have explained renal tubular dysfunction in patients with thalassemia. For instance, Cetin et al. [7] reported that 6 of 41 patients with beta-thalassemia minor suffered from renal tubular dysfunction, including hypercalciuria, decreased tubular phosphorus reabsorption, renal magnesium and uric acid losing, and tubular proteinuria. In addition, only anemic patients (46.3%) showed an increase in urinary zinc excretion and fractional excretion of sodium and.