background & objectives: the researcher clarified that β/globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. materials and methods: a total of 150 subjects was investigated in two different groups for five polymorphism restriction sites of t...

UNLABELLED Sickle cell anemia is the best known hereditary blood disorder; there are serious complications associated with the condition. Diagnosis and early intervention reduce morbidity and mortality. These benefits have resulted in the widespread use of newborn screening education programs. In Brazil, the National Neonatal Screening Program established by decree 822/01 included sickle cell d...

The erythrocytes of certain human individuals undergo a reversible change in shape known as sickling if deprived of oxygen (1, 2). Taliaferro and Huck (3) postulated that this characteristic is transmitted by a single dominant gene, but failed to account genetically for the wide divergence in clinical signs and symptoms among individuals who possess sickling red cells. A small fraction, about 1...

BACKGROUND Little is known about the effects of blood rheology on the occurrence of acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia and hemoglobin SC disease. DESIGN AND METHODS To address this issue, steady-state hemorheological profiles (blood viscosity, red blood cell deformability, aggregation properties) and hematologic parameters were assessed ...

Sickle cell disease is characterized by a very heterogeneous clinical course among patients with the same mutations for sickle hemoglobin (HbS). anemia (SCA) hereditary hemoglobinopathy caused homozygosity of point mutation in beta-globin gene, which leads to substitution glutamic acid valine sixth position.

A 22-year-old female with factitious sickle cell anemia and recurrent painful crises is described. Because she had sickle cell trait and iron deficiency anemia, she could successfully feign the symptoms of homozygous sickle cell anemia. The identification of this syndrome in patients with genetic disorders is presented.

The aim of the study was to determine the factors associated with resting and exerciseinduced hemoglobin oxygen desaturation. The well-established 6-minute-walk test was conducted in 107 sickle cell children (50 with sickle hemoglobin C disease and 57 with sickle cell anemia) at steady state. Hemoglobin oxygen saturation was measured before and immediately after the 6-minute-walk test. Blood sa...

The aim of the study was to determine the factors associated with resting and exercise-induced hemoglobin oxygen desaturation. The well-established six-minute walk test was conducted in 107 sickle cell children (50 with sickle hemoglobin C disease and 57 with sickle cell anemia) at steady state. Hemoglobin oxygen saturation was measured before and immediately after the six-minute walk test. Blo...

OBJECTIVE To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases. METHODS Fifty-nine adults were included in this cross-sectional study; 47 had sickle cell anemia, and 12 had other sickle cell diseases. All...

BACKGROUND Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S) which, when homozygous (Hb SS) is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objecti...