Novel Decision Tool for More Severe α-Thalassemia Genotypes Screening with Functional Loss of Two or More α-Globin Genes: A Diagnostic Test Study.

After the exclusion of iron deficiency and β-thalassemia, molecular research for α-thalassemia is recommended to investigate microcytic anemia. Aiming to suggest more efficiently the molecular analysis for individuals with a greater chance of having a symptomatic form of the disease, we have developed and validated a new decision tool to predict the presence of two or more deletions of α-thalassemia, increasing considerably the pre-test probability. The model was created using the variables: the percentage of HbA, serum ferritin and mean corpuscular volume standardized by age.

Relationship of anti-tuberculosis drug-induced liver injury and genetic polymorphisms in CYP2E1 and GST.

Setting: Treatment of tuberculosis (TB) can result in Drug-Induced Liver Injury (DILI) since hepatotoxic metabolites are formed during the biotransformation of isoniazid (INH). DILI can be related to the genetic profile of the patient. Single nucleotide polymorphisms in the CYP2E1 gene and GSTM1 and GSTT1 deletion polymorphisms have been associated with adverse events caused by INH.

Serum Hepcidin Concentration in Individuals with Sickle Cell Anemia: Basis for the Dietary Recommendation of Iron.

Dietary iron requirements in patients with sickle cell disease (SCD) remain unclear. SCD is a neglected hemoglobinopathy characterized by intense erythropoietic activity and anemia. Hepcidin is the hormone mainly responsible for iron homeostasis and intestinal absorption.

Implementation of the External Quality Assessment Program in Brazil.

The External Quality Assessment (EQA) in Brazil is performed by the National Health Ministry for diseases that are under supervision of Public Health Department. In addition to the government program, the Brazilian Society of Clinical Analysis and the Brazilian Society of Medical Pathology are allowed to provide their programs under the Supervision of National Agency for Sanitary Surveillance (ANVISA) that regulates laboratories to perform EQA programs.

Protector effect of α-thalassaemia on cholecystitis and cholecystectomy in sickle cell disease.

Objectives: Cholecystitis is one of the complications of symptomatic cholelithiasis responsible for high levels of morbidity of sickle cell disease (SCD) patients. Here, we investigated the possible protective role of single gene deletions of α-thalassaemia in the occurrence of cholelithiasis and cholecystitis in SCD patients, as well as the cholecystectomy requirements.

Methods: The α-globin genotype was determined in 83 SCD patients using the multiplex-polymerase chain reaction and compared with clinical events.