Sickle cell/β-thalassemia: Comparison of Sβ⁰ and Sβ⁺ Brazilian patients followed at a single institution

Abstract

This study identified significant differences among sickle cell/β-thalassemia patients according to the beta mutation involvement, pointing to an important predictor of disease severity.

Echocardiografic abnormalities in patients with sickle cell/β-thalassemia do not depend on the β-thalassemia phenotype

“…Except for the aorta diameters (higher in the Sβ 0 group), there were no significant differences in the other parameters (diameters, thicknesses, masses and volumes of cardiac chambers) between Sβ 0 and Sβ + patients. We therefore consider that the cardiac involvement in this disease does not depend so much on the thalassemia phenotype, unlike other clinical parameters, such as the body mass index and bone mineral density, which differ significantly between Sβ 0 and Sβ + patients 3 . Cardiac involvement seems to occur more homogeneously in this group of individuals.…”

“…Our group has previously identified significant differences among sickle cell/β-thalassemia patients according to the beta globin mutation 3 . The Sβ + individuals are more prone to acute chest syndrome, and Sβ 0 patients presented with a lower body mass index (BMI) and bone mineral density.…”

“…The Sβ + individuals are more prone to acute chest syndrome, and Sβ 0 patients presented with a lower body mass index (BMI) and bone mineral density. The degree of bone damage correlates to lower BMI and hemoglobin levels, as well as plaquetosis, monocytosis and elevated lactate dehydrogenase (LDH), possibly reflecting the effects of hemolysis and inflammation on bone metabolism and body constitution 3 …”

Splenic sequestration crisis as an index manifestation of heterozygous hemoglobinopathy in an adult

“…HbA is absent in Hb S-β o thalassemia and has more severe clinical course, similar to SS disease. Hb S-β + thalassemia usually has 20–30% of HbA and a milder clinical course [6]. This may possibly explain the late onset sickling phenomenon and few sickling crises afterward.…”

HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype‐phenotype correlation

“…10 This mutation is associated with a variable amount of HbA. 11 While a large amount of data are available in the literature concerning the diagnosis and care of the severe SCD phenotypes, management of S/β+ patients is still a matter of debate, because of the rarity of this condition and the limited phenotype available data, [11][12][13][14][15][16] with the exception of a large study restricted to the Jamaican population. 4 There are only limited recommendations regarding hydroxyurea therapy (HU), frequency of red cell transfusions, and use of antibiotic prophylaxis, and no consensus has been reached for the management of HbS/β+ patients.…”