OBJECTIVE To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families. METHODS The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood C...

Most of the techniques for measuring iron stores such as serum iron concentration, iron binding capacity, serum ferritin level, liver biopsy can be troublesome or invasive for patients with thalassemia. The salivary iron measurement could be of potential advantage being an easy and non invasive approach for diagnosis of iron deficiency and iron overload . The aim of this study was to compare th...

Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A (2) < 3.5% and Hb F < 1%). The subjects were screened for - α(3.7) ,...

Each year, an estimated 300,000 infants are born with either of the two most common hemoglobinopathies: the sickle cell diseases or the thalassemias. These inherited diseases are the most prevalent monogenetic disorders worldwide. Sickle cell disease makes up 85% of the total infants, and thalassemias the remaining 15%. It is increasingly apparent that sickle cell disease and thalassemia have b...

Next-generation ektacytometry provided by the osmoscan module of Laser Optical Rotational Red Cell Analyser (LoRRca) MaxSis is, so far, one best complementary diagnostic tools for congenital rare anaemias due to red blood cell defects. Osmotic gradient (OGE) is currently considered gold standard diagnosis membrane disorders, especially hereditary spherocytosis (HS). Impairment deformability, le...

Hemoglobin (Hb) E is one of the world's most common and important mutations. It results in a heterogeneous group of disorders whose phenotype range from asymptomatic to severe. Hb E trait and Hb EE are mild disorders. The combination of Hb E and Hb S (Hb SE) results in a sickle cell disease syndrome similar to sickle beta(+) thalassemia. It is important to distinguish Hb E disorders diagnostica...

In regions highly endemic for Plasmodium falciparum malaria, red cell polymorphisms that confer resistance to severe disease are widespread. Sickle cell trait, alpha-thalassemia, glucose-6-phosphate dehydrogenase deficiency, and blood groups were determined in 100 children from Gabon with severe malaria who were matched with 100 children with mild malaria and followed up for evaluation of reinf...

Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main...

Abstract Introduction Asymptomatic microcytosis may be a prelude to microcytic hypochromic anemia of varied causes. Evaluation red cell indices help delineate cases needing further investigation like hemoglobin high-performance liquid chromatography (Hb-HPLC). In addition, markers iron homeostasis will confirm iron-deficient erythropoiesis (IDE)/iron deficiency (IDA). Materials and Methods This...