Sickle cell disease (SCD) is a genetic disorder in which emoglobin S (Hb S) predominates in red blood cells. It is onsidered a significant public health issue in Brazil.1–3 Sickle cell anemia (SCA, Hb SS) is the most common subype of SCD in the world. Although its clinical course is ariable, patients with SCA generally have the most severe henotype. SCD also includes the heterozygous combinatio...

Isoelectric focusing (IEF) of hemoglobin was compared to the classical chromatography of labeled globin chains for 22 antenatal diagnoses of hemoglobinopathies: 1 1 for /9 thalassemia. and 1 1 for sickle cell disease. In all cases. the two methods gave identical results. The diagnosis was confirmed after birth or abortion. Three fetuses homozygous for /1 thalassemia and one homozygous for sickl...

Background Chronically anemic patients develop compensatory ventricular dilation, even when maintained on chronic transfusion regimens. Our primary goal was to compare right and left ventricular dimensions and function assessed by Cardiovascular Magnetic Resonance (CMR) in pediatric, chronically-transfused sickle-cell disease (SCD) and thalassemia major (TM) patients who lacked cardiac iron. Mo...

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...

INTRODUCTION The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. OBJECTIVE This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. METHODS ...

Sickle cell disease (SCD), thalassemias, and other hemoglobinopathies are major health problems in the United States. It is estimated that there are approximately 100,000 patients with SCD in the United States,1 with approximately 2,000 babies born with SCD every year.2 Historically, infection from capsulated organisms caused high mortality and morbidly in children with SCD. The introduction of...

The thalassemias, sickle cell disease, and other hemoglobinopathies represent a major group of inherited disorders of hemoglobin synthesis. The abnormal hemoglobins were reviewed in the July 2006 issue of Baylor University Medical Center Proceedings. Because of immigration patterns and population flow, these disorders are becoming increasingly more prevalent in the USA. In this article, the cli...

thalassemia. prompting us to treat two patients with sickle cell anemia and two additional patients with $ thalassemia. 5-Azacytidine (2 mg/kg/day) was continuously infused for 7 days with no apparent clinical toxicity. The ‘y//I-globin biosynthetic ratio increased fourfold to sixfold in the bone marrow cells of each patient after treatment and remained elevated for 7-14 additional days. Hypome...